View unique variants - Leiden Muscular Dystrophy pages

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The variants below are all in the CHRNE database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
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.

79 entries
entries per page

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Segregation

Reference

Template

Technique

Frequency

RE-site


1_2	c.-906_130delinsCGCATCCAAGA (Reported 2 times)	-	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	-	-
1	c.-96C>T (Reported 5 times)	-156C>T	r.(=)	p.(=)	CHRNE_00071	affects promoter N-box	germline (inherited)	-	Nichols 1999	DNA	SEQ, SSCA	-	MspI-
1	c.-95G>A (Reported 6 times)	-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-
1	c.-94G>A (Reported 5 times)	-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-
1	c.-60C>T (Reported 2 times)	C362T (P121L)	r.(=)	p.(=)	CHRNE_00079	-	germline (inherited)	-	Ohno 1996	DNA	SEQ	-	-
1_12	c.= (Reported 36 times)	-	r.=	p.=	CHRNE_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-
1_12	c.? (Reported 3 times)	-	r.?	p.?	CHRNE_00000	unknown variant 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-
1	c.23T>A (Reported 2 times)	V-13D	r.(?)	p.(Val8Asp)	CHRNE_00025	-	germline (inherited)	-	Middleton 1999	DNA	SEQ	-	-
1	c.26T>G (Reported 2 times)	-	r.(?)	p.(Leu9Arg)	CHRNE_00078	-	germline (inherited)	-	-	DNA	SEQ	-	-
1	c.37G>A (Reported 3 times)	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	-	-
2	c.53G>T (Reported 4 times)	G-8T (G-3V)	r.53g>u	p.Gly18Val	CHRNE_00092	-	germline (inherited)	-	Engel 1996	DNA, RNA	RT-PCR, SEQ, SSCA	-	-
2	c.92T>C (Reported 2 times)	-	r.(?)	p.(Leu31Pro)	CHRNE_00093	-	germline (inherited)	-	-	DNA	SEQ	-	-
2	c.130dupG (Reported 6 times)	-	r.(?)	p.(Glu44Glyfs*3)	CHRNE_00021	-	germline (inherited)	-	-	DNA	SEQ	-	-
2	c.158_161dup (Reported 2 times)	-	r.(?)	p.(Lys34Asnfs*13)	CHRNE_00091	-	germline (inherited)	-	-	DNA	SEQ	-	-
2	c.183_187dup (Reported 3 times)	127ins5	r.183_187dup	p.Leu63Profs*3	CHRNE_00010	not in 100 control chromosomes	germline (inherited)	-	Ohno 1997	DNA, RNA	RT-PCR:SEQ	-	BslI-
3	c.211A>C (Reported 3 times)	T51P	r.(?)	p.(Thr71Pro)	CHRNE_00024	-	germline (inherited)	-	Middleton 1999	DNA	SEQ	-	HphI
3i	c.234+54C>A (Reported 2 times)	IVS3+54C>A	r.(=)	p.(=)	CHRNE_00094	-	germline (inherited)	-	Abicht 2002	DNA	SEQ	-	-
4	c.250C>T (Reported 2 times)	C190T (R64X)	r.(?)	p.(Arg84*)	CHRNE_00011	not in 100 control chromosomes	germline (inherited)	-	Ohno 1997, (OMIM 0004)	DNA	SEQ	-	-
4i	c.501-16G>A (Reported 2 times)	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)	-	M¸ller 2006	DNA, RNA	RT-PCR, SEQ	MspI-	-
5	c.355C>T (Reported 2 times)	-	r.(?)	p.(Gln119*)	CHRNE_00096	-	germline (inherited)	-	-	DNA	SEQ	-	-
5	c.422C>T (Reported 7 times)	C362T (P121L)	r.(?)	p.(Pro141Leu)	CHRNE_00006	not in 84 CMS/200 control chromosomes	germline (inherited)	-	Ohno 1996, (OMIM 0003)	DNA	SEQ, SSCA	-	MspI-
5	c.442T>A	-	r.(?)	p.(Cys148Ser)	CHRNE_00017	-	germline (inherited)	-	-	DNA	SEQ	-	-
5	c.452_454del (Reported 4 times)	450_452del	r.(?)	p.(Glu151del)	CHRNE_00065	-	germline (inherited)	-	-	DNA	SEQ	-	-
5	c.478C>T	-	r.(?)	p.(Gln160*)	CHRNE_00097	-	germline (inherited)	-	-	DNA	SEQ	-	-
5	c.485G>A (Reported 2 times)	545G>A	r.(?)	p.(Cys162Tyr)	CHRNE_00098	-	germline (inherited)	-	-	DNA	SEQ	-	-
5	c.488C>T (Reported 4 times)	428C>T (S143L)	r.(?)	p.(Ser163Leu)	CHRNE_00007	not in 84 CMS/200 control chromosomes; affects N-glycosylation site	germline (inherited)	-	Ohno 1996	DNA	SEQ	-	-
5	c.500G>T (Reported 2 times)	G440T (R147L)	r.500g>u	p.Arg167Leu	CHRNE_00012	not in 100 control chromosomes	germline (inherited)	-	Ohno 1997, (OMIM 0005)	DNA, RNA	RT-PCR:SEQ	-	BsaWI-
6	c.535A>C (Reported 2 times)	-	r.(?)	p.(Thr179Pro)	CHRNE_00029	-	germline (inherited)	-	-	DNA	SEQ	-	-
6	c.571A>T (Reported 2 times)	-	r.(?)	p.(Lys191*)	CHRNE_00050	-	germline (inherited)	-	-	DNA	SEQ	-	-
6	c.583G>C	-	r.(?)	p.(Asp195His)	CHRNE_00114	-	unknown	-	-	DNA	PCR, SEQ	-	-
7	c.614_620del (Reported 3 times)	553del7	r.(?)	p.(Trp205Serfs*7)	CHRNE_00013	not in 100 control chromosomes	germline (inherited)	-	Ohno 1997	DNA	SEQ	-	HinfI+
7	c.617_635del	-	r.(?)	p.(Ala206Glyfs*2)	CHRNE_00115	-	unknown	-	-	DNA	PCR, SEQ	-	-
7	c.626delT (Reported 2 times)	-	r.(?)	p.(Phe209Serfs*5)	CHRNE_00099	-	germline (inherited)	-	-	DNA	SEQ	-	-
7	c.629G>T	632G>T	r.(?)	p.(Cys210Phe)	CHRNE_00100	-	germline (inherited)	-	-	DNA	SEQ	-	-
7	c.706_708del	-	r.(?)	p.(Ile226del)	CHRNE_00101	-	germline (inherited)	-	-	DNA	SEQ	-	-
7	c.712C>T	-	r.(?)	p.(Arg238Trp)	CHRNE_00067	-	germline (inherited)	-	Abicht Acta Myologica 2000, Ohno Neuromuscul.Disord. 2005	DNA	SEQ	-	-
7	c.764C>T (Reported 3 times)	-	r.(?)	p.(Ser255Leu)	CHRNE_00102	-	germline (inherited)	-	-	DNA	SEQ	-	-
7	c.783delC (Reported 5 times)	723delC	r.(?)	p.(Tyr262Thrfs*38)	CHRNE_00026	-	germline (inherited)	-	Middleton 1999	DNA	SEQ	-	-
7	c.794C>T (Reported 4 times)	C734T (P245L)	r.(?)	p.(Pro265Leu)	CHRNE_00014	not in 100 control chromosomes	germline (inherited)	-	Ohno 1997	DNA	SEQ	-	MspI-
7	c.794delC	-	r.(?)	p.(Pro265Argfs*35)	CHRNE_00068	-	germline (inherited)	-	-	DNA	SEQ	-	-
7i	c.802+2T>C (Reported 2 times)	IVS7+2T>C	r.(spl?)	p.(?)	CHRNE_00103	-	germline (inherited)	-	-	DNA	SEQ	-	-
7i	c.803-6_803-3del (Reported 2 times)	-	r.spl?	p.?	CHRNE_00072	-	germline (inherited)	-	-	DNA	PCR, SEQ	-	-
7i	c.803-2A>G (Reported 4 times)	IVS7-2A>G	r.spl	p.?	CHRNE_00104	-	germline (inherited)	-	-	DNA	SEQ	-	-
8	c.813_820dup (Reported 3 times)	760ins8	r.(?)	p.(Thr274Argfs*29)	CHRNE_00027	-	germline (inherited)	-	Middleton 1999	DNA	SEQ	-	HaeIII
8	c.835G>C	Val259Leu	r.(?)	p.(Val279Leu)	CHRNE_00053	-	germline (inherited)	-	-	DNA	SEQ	-	-
8	c.847C>T	-	r.(?)	p.(Gln283*)	CHRNE_00105	-	germline (inherited)	-	-	DNA	SEQ	-	-
8	c.865C>T (Reported 4 times)	C805T (L269F)	r.865c>u	p.Leu289Phe	CHRNE_00004	not in 102 CMS/200 control chromosomes; probably de novo in patient (father not available)	germline (inherited)	-	Engel 1996	DNA, RNA	RT-PCR, SEQ, SSCA	-	MnlI-
8	c.872C>T (Reported 2 times)	872G>A	r.(?)	p.(Ala291Val)	CHRNE_00107	-	germline (inherited)	-	-	DNA	SEQ	-	-
8	c.901G>A	-	r.(?)	p.(Val301Met)	CHRNE_00108	inherited from father	germline (inherited)	-	-	DNA	SEQ	-	-
8	c.916A>T	-	r.(?)	p.(Arg306Trp)	CHRNE_00109	-	germline (inherited)	-	-	DNA	SEQ	-	-
8	c.917G (Reported 4 times)	-	r.(spl?)	p.(Arg306Met)	CHRNE_00110	-	germline (inherited)	-	-	DNA	SEQ	-	-
8i	c.917+15C>G (Reported 4 times)	C857+15G	r.(=)	p.(=)	CHRNE_00111	-	germline (inherited)	-	Sine 1995	DNA	SEQ, SSCA	-	-
9	c.971delT (Reported 4 times)	-	r.(?)	p.(Ile324Thrfs*61)	CHRNE_00031	-	germline (inherited)	-	-	DNA	PCR, SEQ	-	-
9	c.991C>T (Reported 6 times)	C931T (R311W)	r.(?)	p.(Arg331Trp)	CHRNE_00015	not in 100 control chromosomes	germline (inherited)	-	Ohno 1997	DNA	SEQ	-	AciI-
9i	c.1033-6C>T (Reported 3 times)	C973-6T	r.=	p.=	CHRNE_00112	-	germline (inherited)	-	Engel 1996	DNA, RNA	RT-PCR, SEQ, SSCA	-	-
9i	c.1033-1G>C	-	r.spl?	p.?	CHRNE_00116	-	germline (inherited)	-	-	DNA	PCR, SEQ	-	-
10	c.1072C>A	-	r.(?)	p.(Pro368Thr)	CHRNE_00082	-	germline (inherited)	-	-	DNA	SEQ	-	-
10	c.1093delG	-	r.(?)	p.(Ala365Profs*20)	CHRNE_00118	-	germline (inherited)	-	-	DNA	PCR, SEQ	-	-
10	c.1121C>A (Reported 2 times)	-	r.(?)	p.(Ser374*)	CHRNE_00083	-	germline (inherited)	-	-	DNA	SEQ	-	-
10	c.1192C>T (Reported 2 times)	-	r.(?)	p.(Gln398*)	CHRNE_00059	-	germline (inherited)	-	-	DNA	SEQ	-	-
10i	c.1219+2T>C (Reported 2 times)	IVS10+2T>C	r.(spl?)	p.?	CHRNE_00084	-	germline (inherited)	-	-	DNA	SEQ	-	-
10i	c.1219+2T>G (Reported 9 times)	IVS10+2T>G	r.spl	p.?	CHRNE_00122	-	germline (inherited)	-	Middleton 1999	DNA	SEQ	-	HphI
11	c.1252_1267dup	-	r.(?)	p.(Cys423Serfs*38)	CHRNE_00085	-	germline (inherited)	-	-	DNA	SEQ	-	-
11	c.1258delG	-	r.(?)	p.(Val420Serfs*8)	CHRNE_00060	-	germline (inherited)	-	-	DNA	SEQ	-	-
11	c.1291G>C (Reported 4 times)	-	r.(?)	p.(Ala431Pro)	CHRNE_00028	-	germline (inherited)	-	-	DNA	SEQ	-	-
11	c.1293C>T (Reported 25 times)	C1233T	r.(=)	p.(=)	CHRNE_00086	-	germline (inherited)	-	Sine 1995	DNA	SEQ, SSCA	-	-
11	c.1305A>G (Reported 2 times)	A1245G	r.(?)	p.(=)	CHRNE_00087	-	germline (inherited)	-	Ohno 1996	DNA	SEQ	-	-
11	c.1319_1326+15del	-	r.spl	p.?	CHRNE_00119	-	germline (inherited)	-	-	DNA	PCR, SEQ	-	-
11i	c.1326+1G>A (Reported 2 times)	-	r.spl	p.?	CHRNE_00117	-	germline (inherited)	-	-	DNA	PCR, SEQ	-	-
11i	c.(1326+10_1326+29del)	1266+10del20	r.(=)	p.(=)	CHRNE_00000	description variant unclear	germline (inherited)	-	Sine 1995	DNA	SEQ, SSCA	-	-
11i	c.1326+21_1326+40del	-	r.(spl?)	p.(?)	CHRNE_00073	-	germline (inherited)	-	-	DNA	PCR, SEQ	-	-
11i	c.1326+33G>C	G1266+33C	r.(=)	p.(=)	CHRNE_00113	-	germline (inherited)	-	Sine 1995	DNA	SEQ, SSCA	-	-
12	c.1327delG (Reported 46 times)	1267delG	r.spl?	p.(Glu443Lysfs*64)	CHRNE_00018	not in 120 control chromosomes	germline (inherited)	-	Croxen 1998	DNA	SEQ	-	EcoNI
12	c.1353dupG (Reported 3 times)	-	r.(?)	p.(Asn452Glufs*4)	CHRNE_00009	-	germline (inherited)	-	-	DNA	PCR, SEQ	-	-
12	c.1367_1369del	1304del3	r.(?)	p.(Asn456del)	CHRNE_00062	-	germline (inherited)	-	Abicht Acta Myologica 2000, Ohno Neuromuscul.Disord. 2004	DNA	SEQ	-	-
12	c.1429delG (Reported 2 times)	-	r.(?)	p.(Ala477Profs*30)	CHRNE_00063	-	germline (inherited)	-	-	DNA	SEQ	-	-
12	c.1441C>T (Reported 2 times)	-	r.(?)	p.(Arg481*)	CHRNE_00090	-	germline (inherited)	-	-	DNA	SEQ	-	-
12	c.*837A>G	-	r.(?)	p.(=)	CHRNE_00088	comparison dbEST	germline (inherited)	-	-	DNA	SEQ	-	-
12	c.*868G>T (Reported 2 times)	1341821G>T	r.(?)	p.(=)	CHRNE_00089	-	germline (inherited)	-	Abicht 2002	DNA	SEQ	-	-

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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.
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

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Cholinergic receptor, nicotinic, epsilon (CHRNE)