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The variants below are all in the CHRNE database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than CHRNE, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the CHRNE full legend here.

291 public entries
entries per page

Path.

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Segregation

Reference

Template

Technique

Frequency

RE-site

Phenotype

Phenotype additional

Reference

Remarks

Geographic origin

Ethnic origin

Gender

Inheritance

Consanguinity

Fam_Pat

# reported

CK level

Protein data


+/?	1_2	c.-906_130delinsCGCATCCAAGA + c.-94G>A, c.234+54C>A, c.*868G>T	-	r.0?	p.0?	CHRNE_00081	1.29 Kb deletion promoter-exon 2; fusion transcripts containing 5' GP1BA sequences	germline (inherited)	-	Abicht 2002	DNA, RNA	RT-PCR, SEQ	-	-	myasthenic syndrome, congenital	ptosis, limited eye movements, mild facial/limb weakness; 36y-marked bilateral ptosis, severe bilateral reduction eye abduction, fatigable weakness (more proximal then distal limb muscles)	Abicht 2002, MGZ-München	2-generation family, unaffected parents/6 siblings	Germany	-	M	isolated (sporadic)	-	-	1	-	no AChR antibodies
+/?	1_2	c.-906_130delinsCGCATCCAAGA + c.=	-	r.?	p.?	CHRNE_00081	1.29 Kb deletion promoter-exon 2	germline (inherited)	-	Abicht 2002	DNA	SEQ	-	-	-	-	MGZ-München	unaffected carrier father, brother	Germany	-	M	isolated (sporadic)	-	-	2	-	-
+/?	1	c.-96C>T + c.-96C>T	-156C>T	r.(=)	p.(=)	CHRNE_00071	affects promoter N-box	germline (inherited)	-	Nichols 1999	DNA	SEQ, SSCA	-	MspI-	myasthenic syndrome, congenital (CMS)	-	Nichols 1999, JdD	2-generation family, affected brother/sister	United Kingdom	-	F	isolated (sporadic)	-	-	1	-	-
+/?	1	c.-96C>T + c.-96C>T	-156C>T	r.(=)	p.(=)	CHRNE_00071	affects promoter N-box	germline (inherited)	-	Nichols 1999	DNA	SEQ, SSCA	-	MspI-	myasthenic syndrome, congenital (CMS)	-	Nichols 1999, JdD	2-generation family, affected brother/sister	United Kingdom	-	F	isolated (sporadic)	-	-	1	-	-
+/?	1	c.-96C>T + c.-96C>T	-156C>T	r.(=)	p.(=)	CHRNE_00071	affects promoter N-box, no CHRNE mRNA expression	germline (inherited)	-	Nichols 1999	DNA, RNA	RT-PCR, SEQ, SSCA	-	MspI-	myasthenic syndrome, congenital (CMS)	-	Nichols 1999, JdD	2-generation family, affected brother/sister	United Kingdom	-	M	isolated (sporadic)	-	-	1	-	-
+/?	1	c.-96C>T + c.-96C>T	-156C>T	r.(=)	p.(=)	CHRNE_00071	affects promoter N-box, no CHRNE mRNA expression	germline (inherited)	-	Nichols 1999	DNA, RNA	RT-PCR, SEQ, SSCA	-	MspI-	myasthenic syndrome, congenital (CMS)	-	Nichols 1999, JdD	2-generation family, affected brother/sister	United Kingdom	-	M	isolated (sporadic)	-	-	1	-	-
+/?	1	c.-96C>T + c.=	-156C>T	r.(=)	p.(=)	CHRNE_00071	affects promoter N-box	germline (inherited)	-	Nichols 1999	DNA	SEQ, SSCA	-	MspI-	-	-	JdD	unaffected carrier parents and 2 sisters	United Kingdom	-	-	unknown	-	-	4	-	-
+/?	1	c.-95G>A + c.-95G>A, CHRND (2), CHRNA1 (4)	-155G>A	r.(=)	p.(=)	CHRNE_00074	not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996)	germline (inherited)	-	Ohno 1999	DNA	SEQ	-	MspI-	myasthenic syndrome, congenital (CMS)	developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness	Ohno 1999, JdD	2-generation family, affected brother/sister, unaffected carrier parents	Turkey	-	M	isolated (sporadic)	-	-	1	-	no AChR antibodies
+/?	1	c.-95G>A + c.-95G>A, CHRND (2), CHRNA1 (4)	-155G>A	r.(=)	p.(=)	CHRNE_00074	not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996)	germline (inherited)	-	Ohno 1999	DNA	SEQ	-	MspI-	myasthenic syndrome, congenital (CMS)	developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness	Ohno 1999, JdD	2-generation family, affected brother/sister, unaffected carrier parents	Turkey	-	M	isolated (sporadic)	-	-	1	-	no AChR antibodies
+/?	1	c.-95G>A + c.-95G>A, CHRND (2), CHRNA1 (4)	-155G>A	r.(=)	p.(=)	CHRNE_00074	not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996)	germline (inherited)	-	Ohno 1999	DNA	SEQ	-	MspI-	myasthenic syndrome, congenital (CMS)	myasthenic symptoms; 14y normal	Ohno 1999, JdD	2-generation family, affected brother/sister, unaffected carrier parents	Turkey	-	F	isolated (sporadic)	-	-	1	-	-
+/?	1	c.-95G>A + c.-95G>A, CHRND (2), CHRNA1 (4)	-155G>A	r.(=)	p.(=)	CHRNE_00074	not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996)	germline (inherited)	-	Ohno 1999	DNA	SEQ	-	MspI-	myasthenic syndrome, congenital (CMS)	myasthenic symptoms; 14y normal	Ohno 1999, JdD	2-generation family, affected brother/sister, unaffected carrier parents	Turkey	-	F	isolated (sporadic)	-	-	1	-	-
+/?	1	c.-95G>A + c.=, CHRND (1), CHRNA1 (2)	-155G>A	r.(=)	p.(=)	CHRNE_00074	not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996)	germline (inherited)	-	Ohno 1999	DNA	SEQ	-	MspI-	-	-	JdD	unaffected carrier parents and brother	Turkey	-	-	unknown	-	-	3	-	-
+/?	1	c.-95G>A + c.1327delG	-	r.(=)	p.(=)	CHRNE_00074	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Czech Republic	-	-	unknown	-	-	1	-	-
+/?	1	c.-94G>A + c.-906_130delinsCGCATCCAAGA, c.234+54C>A, c.*868G>T	-154G>A	r.(=)	p.(=)	CHRNE_00080	not in 84 CMS/104 control chromosomes; severely reduced expression	germline (inherited)	-	Abicht 2002	DNA, RNA	RT-PCR, SEQ	-	MspI-	myasthenic syndrome, congenital	ptosis, limited eye movements, mild facial/limb weakness; 36y-marked bilateral ptosis, severe bilateral reduction eye abduction, fatigable weakness (more proximal then distal limb muscles)	Abicht 2002, MGZ-München	2-generation family, unaffected parents/6 siblings	Germany	-	M	isolated (sporadic)	-	-	1	-	no AChR antibodies
+/?	1	c.-94G>A + c.=, c.234+54C>A, c.*868G>T	-154G>A	r.(=)	p.(=)	CHRNE_00080	-	germline (inherited)	-	Abicht 2002	DNA	SEQ	-	MspI-	-	-	MGZ-München	unaffected carrier mother, sister	Germany	-	F	unknown	-	-	2	-	-
+/?	1	c.-94G>A	-154G>A	r.(=)	p.(=)	CHRNE_00080	reporter gene construct rat soleus muscle not induced by agrin	germline (inherited)	-	Abicht 2002	DNA	SEQ	-	-	in vitro	-	MGZ-München	-	-	-	-	unknown	-	-	1	-	-
+/?	1	c.-94G>A + c.-94G>A	-	r.(=)	p.(=)	CHRNE_00080	-	germline (inherited)	-	-	DNA	SEQ	-	MspI-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
+/?	1	c.-94G>A + c.-94G>A	-	r.(=)	p.(=)	CHRNE_00080	-	germline (inherited)	-	-	DNA	SEQ	-	MspI-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
-/?	1	c.-60C>T + c.422C>T, c.488C>T, c.1305A>G	C362T (P121L)	r.(=)	p.(=)	CHRNE_00079	-	germline (inherited)	-	Ohno 1996	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	Ohno 1996, JdD	2-generation family, affected brother/sister, unaffected carrier parents	-	-	M	unknown	-	-	1	-	-
-/?	1	c.-60C>T + c.422C>T, c.488C>T, c.1305A>G	C362T (P121L)	r.(=)	p.(=)	CHRNE_00079	-	germline (inherited)	-	Ohno 1996	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	Ohno 1996, JdD	2-generation family, affected brother/sister, unaffected carrier parents	-	-	F	unknown	-	-	1	-	-
-/-	1_12	c.= + 10 others	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital, slow channel (SCCMS)	7y-intermittent episodes respiratory insufficiency requiring ventilatory support; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli	Engel 1996, JdD	2-generation family, affected boy	United States	-	M	unknown	-	-	1	-	no AChR antibodies
-/-	1_12	c.= + c.-96C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	unaffected carrier parents and 2 sisters	United Kingdom	-	-	unknown	-	-	4	-	-
-/-	1_12	c.= + c.-95G>A, CHRND (1), CHRNA1 (2)	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	unaffected carrier parents and brother	Turkey	-	-	unknown	-	-	3	-	-
-/-	1_12	c.= + c.53G>T, c.422C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	unaffected carrier mother and son	Germany	-	-	unknown	-	-	2	-	-
-/-	1_12	c.= + c.37G>A	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	unaffected carrier father and daugther	Germany	-	-	isolated (sporadic)	-	-	2	-	-
-/-	1_12	c.= + c.422C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	unaffected carrier mother	Germany	-	F	unknown	-	-	1	-	-
-/-	1_12	c.= + c.488C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	unaffected carrier father	Germany	-	M	unknown	-	-	1	-	-
-/-	1_12	c.= + c.-94G>A, c.234+54C>A, c.*868G>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	MGZ-München	unaffected carrier mother, sister	Germany	-	F	unknown	-	-	2	-	-
-/-	1_12	c.= + c.-906_130delinsCGCATCCAAGA	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	MGZ-München	unaffected carrier father, brother	Germany	-	M	isolated (sporadic)	-	-	2	-	-
-/-	1_12	c.= + c.1293C>T, c.1327delG	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	2-generation family, unaffected parents/2 sisters, MGZ-München	-	(Germany)	-	-	unknown	-	-	4	-	-
-/-	1_12	c.= + c.835G>C	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital, slow channel (SCCMS)	-	autosomal dominant, MGZ-München	-	Germany	-	-	familial, autosomal dominant	-	-	1	-	-
-/-	1_12	c.= + c.865C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital, slow channel (SCCMS)	-	autosomal dominant, MGZ-München	-	Germany	-	-	familial, autosomal dominant	-	-	1	-	-
-/-	1_12	c.=	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital, slow channel (SCCMS)	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
-/-	1_12	c.= + c.501-16G>A	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	MGZ-München	unaffected carrier mother/sister	Germany	-	-	unknown	-	-	2	-	-
-/-	1_12	c.= + c.971delT	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	MGZ-München	unaffected carrier father	Germany	-	M	unknown	-	-	1	-	-
-/-	1_12	c.= + c.865C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	facial weaknessw, generalised muscle atrophy, scoliosis	Colomer 2006, Chaouch 2011, MGZ-München	-	Spain	-	M	isolated (sporadic)	no	-	1	-	-
-/-	1_12	c.= + c.614_620del	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	3-generation family, unaffected carrier mother/sister	-	-	F	familial, autosomal recessive	no	-	2	-	-
-/-	1_12	c.= + c.991C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	3-generation family, unaffected father/2 children	-	-	?	familial, autosomal recessive	no	-	3	-	-
-/-	1_12	c.= + c.183_187dup	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	3-generation family, unaffected carrier mother	-	-	F	familial, autosomal recessive	no	-	1	-	-
-/-	1_12	c.= + c.794C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	3-generation family, unaffected carrier father	-	-	M	familial, autosomal recessive	no	-	1	-	-
-/-	1_12	c.= + c.250C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier mother	-	-	M	familial, autosomal recessive	no	-	1	-	-
-/-	1_12	c.= + c.500G>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier father/brother	-	-	M	familial, autosomal recessive	no	-	2	-	-
-/-	1_12	c.= + c.991C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier mother	Jordan	-	F	familial, autosomal recessive	yes	-	1	-	-
-/-	1_12	c.= + c.991C>T	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier father	Jordan	-	M	familial, autosomal recessive	yes	-	1	-	-
-/-	1_12	c.= + c.1327delG	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	adopted	-	-	?	isolated (sporadic)	unknown	-	1	-	-
-/-	1_12	c.= + c.1327delG	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	3-generation family, 7 unaffected carriers	Greek	gypsy	?	familial, autosomal recessive	yes	-	7	-	-
-/-	1_12	c.= + c.1327delG	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents/brother	Turkey	-	?	familial, autosomal recessive	unknown	-	3	-	-
-/-	1_12	c.= + c.1327delG	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents	Greek	gypsy	?	familial, autosomal recessive	unknown	-	2	-	-
-/-	1_12	c.= + c.1327delG	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	3-generation family, unaffected carrier parents/relatives	Greek	gypsy	?	familial, autosomal recessive	yes	-	8	-	-
-/-	1_12	c.= + c.1327delG	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	4-generation family, unaffected carrier parents/relatives	-	-	?	familial, autosomal recessive	yes	-	7	-	-
-/-	1_12	c.= + c.1219+2T>G	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents/sister	Turkey	-	?	familial, autosomal recessive	yes	-	3	-	-
-/-	1_12	c.= + c.1219+2T>G	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents	Turkey	-	?	familial, autosomal recessive	yes	-	2	-	-
-/-	1_12	c.= + c.1219+2T>G	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	3-generation family, unaffected carrier parents/relatives	Turkey	-	?	familial, autosomal recessive	yes	-	5	-	-
-/-	1_12	c.= + c.211A>C	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents/sister	Turkey	-	?	familial, autosomal recessive	yes	-	3	-	-
-/-	1_12	c.= + c.783delC	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents	Jordan	-	?	familial, autosomal recessive	yes	-	2	-	-
-/-	1_12	c.= + c.813_820dup	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents/brother	Turkey	-	?	familial, autosomal recessive	yes	-	3	-	-
?/?	1_12	c.? + c.478C>T	-	r.?	p.?	CHRNE_00000	unknown variant 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
?/?	1_12	c.? + c.901G>A	-	r.?	p.?	CHRNE_00000	unknown variant 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	father no clinical or electrophysiological signs of CMS	Germany	-	-	isolated (sporadic)	-	-	1	-	-
?/?	1_12	c.? + c.1072C>A	-	r.?	p.?	CHRNE_00000	unknown variant 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	isolated (sporadic)	-	-	1	-	-
+/?	1	c.23T>A + c.23T>A	V-13D	r.(?)	p.(Val8Asp)	CHRNE_00025	-	germline (inherited)	-	Middleton 1999	DNA	SEQ	-	-	myasthenic syndrome, congenital (CMS)	-	JdD	-	Jordan	-	?	unknown	yes	-	1	-	-
+/?	1	c.26T>G + c.26T>G	-	r.(?)	p.(Leu9Arg)	CHRNE_00078	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Portugal	-	-	unknown	-	-	1	-	-
+/?	1	c.26T>G + c.26T>G	-	r.(?)	p.(Leu9Arg)	CHRNE_00078	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Portugal	-	-	unknown	-	-	1	-	-
+/?	1	c.37G>A + c.53G>T, c.422C>T, c.917+15C>G, c.1033-6C>T, c.1293C>T, CHRNA1 (2)	G-24A (G-8R)	r.(?)	p.(Gly13Arg)	CHRNE_00005	not in 84 CMS/200 control chromosomes; residue not conserved	germline (inherited)	-	Ohno 1996	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	Ohno 1996, JdD	3-generation family, unaffected carrier parents/son	Germany	-	F	unknown	-	-	1	-	-
+/?	1	c.37G>A + c.=	G-24A (G-8R)	r.(?)	p.(Gly13Arg)	CHRNE_00005	residue not conserved	germline (inherited)	-	Ohno 1996	DNA	SEQ	-	-	-	-	JdD	unaffected carrier father and daugther	Germany	-	-	isolated (sporadic)	-	-	2	-	-
+/?	1	c.37G>A	-	-	p.Gly13Arg	CHRNE_00005	expression cloning human cDNA HEK293 cells; reduced expression CHRNE, 0.10 assembly with CHRNA	germline (inherited)	-	Ohno 1996	DNA	SEQ	-	-	in vitro	-	JdD	-	-	-	-	unknown	-	-	1	-	-
-/?	2	c.53G>T + CHRNB1 (2), CHRND (3)	G-8T (G-3V)	r.53g>u	p.Gly18Val	CHRNE_00092	-	germline (inherited)	-	Engel 1996	DNA, RNA	RT-PCR, SEQ, SSCA	-	-	myasthenic syndrome, congenital, slow channel (SCCMS)	myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli	Engel 1996, JdD	3-generation family, affected girl	United States	-	F	unknown	-	-	1	-	no AChR antibodies
-/?	2	c.53G>T + c.37G>A, c.422C>T, c.917+15C>G, c.1033-6C>T, c.1293C>T, CHRNA1 (2)	G-8T (G-3V)	r.(?)	p.(Gly18Val)	CHRNE_00092	-	germline (inherited)	-	Ohno 1996	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	Ohno 1996, JdD	3-generation family, unaffected carrier parents/son	Germany	-	F	unknown	-	-	1	-	-
-/?	2	c.53G>T + c.=, c.422C>T	G-8T (G-3V)	r.(?)	p.(Gly18Val)	CHRNE_00092	-	germline (inherited)	-	Ohno 1996	DNA	SEQ	-	-	-	-	JdD	unaffected carrier mother and son	Germany	-	-	unknown	-	-	2	-	-
-/?	2	c.53G>T	G-8T (G-3V)	r.53g>u	p.Gly18Val	CHRNE_00092	control chromosomes	germline (inherited)	-	Engel 1996	DNA, RNA	SEQ	6/252	-	-	-	JdD	-	United States	-	-	unknown	-	-	6	-	-
+/?	2	c.92T>C + c.92T>C	-	r.(?)	p.(Leu31Pro)	CHRNE_00093	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Brazil	-	-	unknown	-	-	1	-	-
+/?	2	c.92T>C + c.92T>C	-	r.(?)	p.(Leu31Pro)	CHRNE_00093	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Brazil	-	-	unknown	-	-	1	-	-
+/?	2	c.130dupG + c.803-2A>G	-	r.(?)	p.(Glu44Glyfs*3)	CHRNE_00021	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
+/?	2	c.130dupG + c.183_187dup	-	r.(?)	p.(Glu44Glyfs*3)	CHRNE_00021	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
+/?	2	c.130dupG + c.764C>T	-	r.(?)	p.(Glu44Glyfs*3)	CHRNE_00021	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Brasil	-	-	unknown	-	-	1	-	-
+/?	2	c.130dupG + c.794C>T	-	r.(?)	p.(Glu44Glyfs*3)	CHRNE_00021	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Portugal	-	-	unknown	-	-	1	-	-
+/?	2	c.130dupG + c.794C>T	-	r.(?)	p.(Glu44Glyfs*3)	CHRNE_00021	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Chile	-	-	unknown	-	-	1	-	-
+/?	2	c.130dupG + c.917G	-	r.(?)	p.(Glu44Glyfs*3)	CHRNE_00021	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
+/?	2	c.158_161dup + c.158_161dup	-	r.(?)	p.(Lys34Asnfs*13)	CHRNE_00091	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Iran	-	-	unknown	-	-	1	-	-
+/?	2	c.158_161dup + c.158_161dup	-	r.(?)	p.(Lys34Asnfs*13)	CHRNE_00091	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Iran	-	-	unknown	-	-	1	-	-
+/?	2	c.183_187dup + c.794C>T, CHRND (2), CHRNB1 (3), CHRNA1 (2)	127ins5	r.183_187dup	p.Leu63Profs*3	CHRNE_00010	not in 100 control chromosomes	germline (inherited)	-	Ohno 1997	DNA, RNA	RT-PCR:SEQ	-	BslI-	myasthenic syndrome, congenital, slow channel	-	JdD	3-generation family, affected brother/sister	-	-	?	familial, autosomal recessive	-	-	2	-	-
+/?	2	c.183_187dup + c.130dupG	-	r.(?)	p.(Leu63Profs*3)	CHRNE_00010	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
+/?	2	c.183_187dup + c.=	127ins5	r.183_187dup	p.Leu63Profs*3	CHRNE_00010	not in 100 control chromosomes	germline (inherited)	-	Ohno 1997	DNA	SEQ	-	BslI-	-	-	JdD	3-generation family, unaffected carrier mother	-	-	F	familial, autosomal recessive	no	-	1	-	-
+/?	3	c.211A>C + c.211A>C	T51P	r.(?)	p.(Thr71Pro)	CHRNE_00024	-	germline (inherited)	-	Middleton 1999	DNA	SEQ	-	HphI	myasthenic syndrome, congenital (CMS)	-	JdD	2-generation family, 1 affected	Turkey	-	M	familial, autosomal recessive	yes	-	1	-	-
+/?	3	c.211A>C + c.=	T51P	r.(?)	p.(Thr71Pro)	CHRNE_00024	-	germline (inherited)	-	Middleton 1999	DNA	SEQ	-	HphI	-	-	JdD	2-generation family, unaffected carrier parents/sister	Turkey	-	?	familial, autosomal recessive	yes	-	3	-	-
-/?	3i	c.234+54C>A + c.-906_130delinsCGCATCCAAGA, c.-94G>A, c.*868G>T	IVS3+54C>A	r.(=)	p.(=)	CHRNE_00094	-	germline (inherited)	-	Abicht 2002	DNA	SEQ	-	-	myasthenic syndrome, congenital	ptosis, limited eye movements, mild facial/limb weakness; 36y-marked bilateral ptosis, severe bilateral reduction eye abduction, fatigable weakness (more proximal then distal limb muscles)	Abicht 2002, MGZ-München	2-generation family, unaffected parents/6 siblings	Germany	-	M	isolated (sporadic)	-	-	1	-	no AChR antibodies
-/?	3i	c.234+54C>A + c.-94G>A, c.=, c.*868G>T	IVS3+54C>A	r.(=)	p.(=)	CHRNE_00094	-	germline (inherited)	-	Abicht 2002	DNA	SEQ	-	-	-	-	MGZ-München	unaffected carrier mother, sister	Germany	-	F	unknown	-	-	2	-	-
+/?	4	c.250C>T + c.500G>T, CHRND (1), CHRNB1 (1), CHRNA1 (2)	C190T (R64X)	r.(?)	p.(Arg84*)	CHRNE_00011	not in 100 control chromosomes	germline (inherited)	-	Ohno 1997, (OMIM 0004)	DNA	SEQ	-	-	myasthenic syndrome, congenital, slow channel	-	JdD	2-generation family, 2 affected brothers	-	-	M	familial, autosomal recessive	-	-	2	-	-
+/?	4	c.250C>T + c.=	C190T (R64X)	r.(?)	p.(Arg84*)	CHRNE_00011	not in 100 control chromosomes	germline (inherited)	-	Ohno 1997, (OMIM 0004)	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier mother	-	-	M	familial, autosomal recessive	no	-	1	-	-
+/?	4i	c.501-16G>A + c.971delT	IVS5-16G>A	r.[500_501ins501-14_501-1]	p.fs*	CHRNE_00095	not in 200 control chromosomes; splice effect proven by in vitro cloning	germline (inherited)	-	MÂ¸ller 2006	DNA, RNA	RT-PCR, SEQ	MspI-	-	myasthenic syndrome, congenital	daytime-dependent ptosis, ophthalmoparesis, exercise-induced generalised weakness	MGZ-München	2-generation family, affected boy, unaffected carrier parents/sister	Germany	-	M	unknown	-	-	1	-	no AChR antibodies
+/?	4i	c.501-16G>A + c.=	IVS5-16G>A	r.[500_501ins501-14_501-1]	p.fs*	CHRNE_00095	not in 200 control chromosomes	germline (inherited)	-	MÂ¸ller 2006	DNA	SEQ	MspI-	-	-	-	MGZ-München	unaffected carrier mother/sister	Germany	-	-	unknown	-	-	2	-	-
+/?	5	c.355C>T + c.355C>T	-	r.(?)	p.(Gln119*)	CHRNE_00096	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Algeria	-	-	unknown	-	-	1	-	-
+/?	5	c.355C>T + c.355C>T	-	r.(?)	p.(Gln119*)	CHRNE_00096	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Algeria	-	-	unknown	-	-	1	-	-
+/?	5	c.422C>T + c.37G>A, c.53G>T, c.917+15C>G, c.1033-6C>T, c.1293C>T, CHRNA1 (2)	C362T (P121L)	r.(?)	p.(Pro141Leu)	CHRNE_00006	not in 84 CMS/200 control chromosomes	germline (inherited)	-	Ohno 1996, (OMIM 0003)	DNA	SEQ, SSCA	-	MspI-	myasthenic syndrome, congenital	-	Ohno 1996, JdD	3-generation family, unaffected carrier parents/son	Germany	-	F	unknown	-	-	1	-	-
+/?	5	c.422C>T + c.-60C>T, c.488C>T, c.1305A>G	C-60-70T	r.(?)	p.(Pro141Leu)	CHRNE_00006	not in 84 CMS/200 control chromosomes	germline (inherited)	-	Ohno 1996, (OMIM 0003)	DNA	SEQ, SSCA	-	MspI-	myasthenic syndrome, congenital	-	Ohno 1996, JdD	2-generation family, affected brother/sister, unaffected carrier parents	-	-	M	unknown	-	-	1	-	-
+/?	5	c.422C>T + c.=, c.53G>T	C362T (P121L)	r.(?)	p.(Pro141Leu)	CHRNE_00006	not in 84 CMS/200 control chromosomes	germline (inherited)	-	Ohno 1996, (OMIM 0003)	DNA	SEQ, SSCA	-	MspI-	-	-	JdD	unaffected carrier mother and son	Germany	-	-	unknown	-	-	2	-	-
+/?	5	c.422C>T + c.-60C>T, c.488C>T, c.1305A>G	C362T (P121L)	r.(?)	p.(Pro141Leu)	CHRNE_00006	not in 84 CMS/200 control chromosomes	germline (inherited)	-	Ohno 1996, (OMIM 0003)	DNA	SEQ, SSCA	-	MspI-	myasthenic syndrome, congenital	-	Ohno 1996, JdD	2-generation family, affected brother/sister, unaffected carrier parents	-	-	F	unknown	-	-	1	-	-
+/?	5	c.422C>T + c.=	C362T (P121L)	r.(?)	p.(Pro141Leu)	CHRNE_00006	not in 84 CMS/200 control chromosomes	germline (inherited)	-	Ohno 1996, (OMIM 0003)	DNA	SEQ, SSCA	-	MspI-	-	-	JdD	unaffected carrier mother	Germany	-	F	unknown	-	-	1	-	-
+/?	5	c.422C>T	-	-	p.Pro141Leu	CHRNE_00006	expression cloning human cDNA HEK293 cells, markedly decreased rate channel opening	germline (inherited)	-	Ohno 1996, (OMIM 0003)	DNA	SEQ	-	-	in vitro	-	JdD	-	-	-	-	unknown	-	-	1	-	-
+/?	5	c.422C>T + c.629G>T	-	r.(?)	p.(Pro141Leu)	CHRNE_00006	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital, fast channel	-	MGZ-München	-	Algeria	-	-	unknown	-	-	1	-	-
+/?	5	c.442T>A + c.1258delG	-	r.(?)	p.(Cys148Ser)	CHRNE_00017	-	germline (inherited)	-	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-

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Legend: [ CHRNE full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant affecting function (pathogenicity), in the format Reported/Concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown. Exon: number of exon/intron containing variant DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change CHRNE DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) Segregation: indicates whether the variant segregates with the disease (yes), does not segregate with the disease (no) or segregation is unknown (?) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site Phenotype: phenotype of the individual Phenotype additional: detailed phenotypic features of the individual Reference: publication describing the phenotype of the patient Remarks: Remarks Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # reported: Number of times this case has been reported CK level: CK level Protein data: Protein data

Leiden Muscular Dystrophy pages

Cholinergic receptor, nicotinic, epsilon (CHRNE)