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The variants below are all in the CHAT 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 CHAT, 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 CHAT full legend here.

75 public entries
entries per page

Path.

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

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


+/?	2	c.358G>A + c.629T>C, c.1444A>G	-	r.(?)	p.(?)	CHAT_00003	-	germline (inherited)	dbSNP-rs3810950	DNA	SEQ	-	-	-	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	2	c.358G>A	-	r.(?)	p.(?)	CHAT_00003	-	germline (inherited)	Mubumbila 2002	DNA	SEQ	-	-	Alzheimer disease, association	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	3	c.406G>A + c.1715C>G	-	r.(?)	p.(Val136Met)	CHAT_00022	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	3	c.406G>A + c.605T>G	-	r.(?)	p.(Val136Met)	CHAT_00022	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	3	c.406G>A + c.1669G>A	-	r.(?)	p.(Val136Met)	CHAT_00022	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	brother of Fam9-II2	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	3	c.406G>A + c.1669G>A	-	r.(?)	p.(Val136Met)	CHAT_00022	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	sister of Fam9-II1	(United States)	-	F	isolated (sporadic)	no	-	2	-	-
+/?	3	c.406G>A + c.1669G>A	-	r.(?)	p.(Val136Met)	CHAT_00022	-	germline (inherited)	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
+/?	4	c.580G>C	-	r.(spl?)	p.(?)	CHAT_00013	-	germline (inherited)	Maselli 2003	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	4	c.605T>G + c.406G>A	-	r.(?)	p.(Met202Arg)	CHAT_00027	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
?/?	4	c.619C>G + c.619C>G	-	r.(?)	p.(Arg207Gly)	CHAT_00033	-	germline (inherited)	-	DNA	PCR, SEQ	-	-	myasthenic syndrome, congenital (CMS); episodic apnea	-	United States:Marshfield, WI	-	Sweden	Iraqi kurdish	F	unknown	-	-	1	-	-
+/?	4	c.629T>C + c.358G>A, c.1444A>G	-	r.(?)	p.(?)	CHAT_00002	-	germline (inherited)	dbSNP-rs28930071	DNA	SEQ	-	-	-	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	4	c.629T>C	-	r.(?)	p.(?)	CHAT_00002	-	germline (inherited)	Ohno 2001	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	4	c.629T>C + c.1493C>T	-	r.(?)	p.(Leu210Pro)	CHAT_00002	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	-	Finland	-	F	unknown	-	-	1	-	-
+/?	4	c.631C>G	-	r.(?)	p.(?)	CHAT_00009	-	germline (inherited)	Ohno 2001	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	4	c.678_684del + c.2066T>G	678_684delTGGCACC	r.(?)	p.(Gly227Metfs*4)	CHAT_00031	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	-	Lebanon	-	M	unknown	-	-	1	-	-
+/?	5	c.703G>A + c.1823C>A	-	r.(?)	p.(Ala235Thr)	CHAT_00026	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	6	c.914T>C	-	r.(?)	p.(?)	CHAT_00010	-	germline (inherited)	Ohno 2001	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	not in 260 control chromosomes	germline (inherited)	Kraner 2003, Schmidt 2003, Schara 2010	DNA	SEQ	-	Tsp4CI+	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID19900826:Schara 2010}	MGZ-München	4-generation family, 2 affected sibs	Turkey	-	F	isolated (sporadic)	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	not in 260 control chromosomes	germline (inherited)	Kraner 2003, Schmidt 2003, Schara 2010	DNA	SEQ	-	Tsp4CI+	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID19900826:Schara 2010}	MGZ-München	4-generation family, 2 affected sibs	Turkey	-	F	isolated (sporadic)	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	sib of 19900826-Pat07	Turkey	-	M	unknown	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	sib of 19900826-Pat07	Turkey	-	M	unknown	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	sib of 19900826-Pat06	Turkey	-	M	unknown	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	sib of 19900826-Pat06	Turkey	-	M	unknown	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	not in 260 control chromosomes	germline (inherited)	Kraner 2003, Schmidt 2003, Schara 2010	DNA	SEQ	-	Tsp4CI+	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID19900826:Schara 2010}	MGZ-München	4-generation family, 2 affected sibs	Turkey	-	M	isolated (sporadic)	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	not in 260 control chromosomes	germline (inherited)	Kraner 2003, Schmidt 2003, Schara 2010	DNA	SEQ	-	Tsp4CI+	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID19900826:Schara 2010}	MGZ-München	4-generation family, 2 affected sibs	Turkey	-	M	isolated (sporadic)	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	not in 260 control chromosomes	germline (inherited)	Schmidt 2003, Schara 2010	DNA	SEQ	-	Tsp4CI+	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID19900826:Schara 2010}	MGZ-München	2-generation family, 1 affected/4 unaffected children	Turkey	-	F	isolated (sporadic)	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	not in 260 control chromosomes	germline (inherited)	Schmidt 2003, Schara 2010	DNA	SEQ	-	Tsp4CI+	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID19900826:Schara 2010}	MGZ-München	2-generation family, 1 affected/4 unaffected children	Turkey	-	F	isolated (sporadic)	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID19900826:Schara 2010}	MGZ-München	-	Turkey	-	F	unknown	-	-	1	-	-
+/?	7	c.1007T>C + c.1007T>C	-	r.(?)	p.(Ile336Thr)	CHAT_00014	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID19900826:Schara 2010}	MGZ-München	-	Turkey	-	F	unknown	-	-	1	-	-
+/?	7	c.1061C>T + c.2081C>G	-	r.(?)	p.(Thr354Met)	CHAT_00015	not in 100 control chromosomes	germline (inherited)	Barisic 2005	DNA	SEQ	-	TaiI+	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID15701560:Barisic 2005}	MGZ-München	2-generation family, unaffected carrier parents	Croatia	-	M	isolated (sporadic)	no	-	1	-	-
+/?	7	c.1061C>T + c.2081C>G	-	r.(?)	p.(Thr354Met)	CHAT_00015	not in 100 control chromosomes	germline (inherited)	Barisic 2005	DNA	SEQ	-	TaiI+	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID15701560:Barisic 2005}	MGZ-München	3-generation family, unaffected carrier parents/grandparents	Croatia	-	F	isolated (sporadic)	no	-	1	-	-
+/?	8	c.1249G>A + c.1249G>A	-	r.(?)	p.(Gly417Arg)	CHAT_00032	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	-	Turkey	-	M	isolated (sporadic)	-	-	1	-	-
+/?	8	c.1249G>A + c.1249G>A	-	r.(?)	p.(Gly417Arg)	CHAT_00032	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	-	Turkey	-	M	isolated (sporadic)	-	-	1	-	-
+/?	8	c.1258C>T	-	r.(?)	p.(?)	CHAT_00004	-	germline (inherited)	Ohno 2001	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	8	c.1262G>C + c.1891G>A	-	r.(?)	p.(Trp421Ser)	CHAT_00019	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	F	isolated (sporadic)	no	-	2	-	-
+/?	9	c.1321G>A	-	r.(?)	p.(?)	CHAT_00005	-	germline (inherited)	Ohno 2001	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	9	c.1321G>A + c.1516G>T	-	r.(?)	p.(Glu441Lys)	CHAT_00005	-	germline (inherited)	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
+/?	?	c.?	-	r.(?)	p.(?)	CHAT_00000	-	germline (inherited)	Ohno 2001	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	10	c.1444A>G + c.358G>A, c.629T>C	-	r.(?)	p.(?)	CHAT_00001	-	germline (inherited)	dbSNP-rs28929481	DNA	SEQ	-	-	-	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	10	c.1444A>G	-	r.(?)	p.(?)	CHAT_00001	-	germline (inherited)	Ohno 2001	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	10	c.1444A>G + c.1444A>G	-	r.(?)	p.(Arg482Gly)	CHAT_00001	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	-	Germany	-	M	unknown	-	-	1	-	-
+/?	10	c.1444A>G + c.1444A>G	-	r.(?)	p.(Arg482Gly)	CHAT_00001	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	-	Germany	-	M	unknown	-	-	1	-	-
+/?	10	c.1492T>C + c.1669G>A	-	r.(?)	p.(Ser498Pro)	CHAT_00023	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	10	c.1493C>T	-	r.(?)	p.(?)	CHAT_00006	-	germline (inherited)	Ohno 2001	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	10	c.1493C>T + c.629T>C	-	r.(?)	p.(Ser498Leu)	CHAT_00006	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	-	Finland	-	F	unknown	-	-	1	-	-
+/?	11	c.1516G>T	-	r.(?)	p.(?)	CHAT_00007	-	germline (inherited)	Ohno 2001	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	11	c.1516G>T + c.1657_1659dup	-	r.(?)	p.(Val506Leu)	CHAT_00007	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	-	Italy	-	F	unknown	-	-	1	-	-
+/?	11	c.1516G>T + c.1321G>A	-	r.(?)	p.(Val506Leu)	CHAT_00007	-	germline (inherited)	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
+/?	11i_12i	c.1635-?_1776+?del + c.1669G>A	-	r.(del)	p.?	CHAT_00000	-	germline (inherited)	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	F	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1642C>T	-	r.(?)	p.(?)	CHAT_00011	-	germline (inherited)	Maselli 2003	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	12	c.1657_1659dup + c.1516G>T	1657_1659dupACC	r.(?)	p.(Thr553dup)	CHAT_00030	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	-	Italy	-	F	unknown	-	-	1	-	-
+/?	12	c.1658C>A	-	r.(?)	p.(?)	CHAT_00016	-	germline (inherited)	Yeung 2009	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	12	c.1658C>A + c.2110T>C	-	r.(?)	p.(Thr553Asn)	CHAT_00016	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	F	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1663G>T + c.1669G>A	-	r.(?)	p.(Glu555*)	CHAT_00028	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1669G>A + c.1492T>C	-	r.(?)	p.(Ala557Thr)	CHAT_00024	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1669G>A + c.1663G>T	-	r.(?)	p.(Ala557Thr)	CHAT_00024	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1669G>A + c.1635-?_1776+?del	-	r.(?)	p.(Ala557Thr)	CHAT_00024	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	F	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1669G>A + c.1669G>A	-	r.(?)	p.(Ala557Thr)	CHAT_00024	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	F	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1669G>A + c.1669G>A	-	r.(?)	p.(Ala557Thr)	CHAT_00024	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	F	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1669G>A + c.406G>A	-	r.(?)	p.(Ala557Thr)	CHAT_00024	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	brother of Fam9-II2	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1669G>A + c.406G>A	-	r.(?)	p.(Ala557Thr)	CHAT_00024	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	sister of Fam9-II1	(United States)	-	F	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1669G>A + c.406G>A	-	r.(?)	p.(Ala557Thr)	CHAT_00024	-	germline (inherited)	-	DNA	SEQ	-	-	myasthenic syndrome, congenital	-	MGZ-München	-	Germany	-	-	unknown	-	-	1	-	-
+/?	12	c.1679G>A	-	r.(?)	p.(?)	CHAT_00008	-	germline (inherited)	Ohno 2001	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	12	c.1715C>G + c.406G>A	-	r.(?)	p.(Ser572Trp)	CHAT_00021	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	12	c.1729G>A	-	r.(?)	p.(?)	CHAT_00018	-	germline (inherited)	Mallory 2009	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	13	c.1823C>A + c.703G>A	-	r.(?)	p.(Thr608Asn)	CHAT_00025	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	M	isolated (sporadic)	no	-	2	-	-
+/?	14	c.1891G>A + c.1262G>C	-	r.(?)	p.(Ala631Thr)	CHAT_00020	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	F	isolated (sporadic)	no	-	2	-	-
+/?	15	c.2066T>G + c.2066T>G	-	r.(?)	p.(Ile689Ser)	CHAT_00029	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	F	isolated (sporadic)	yes	-	1	-	-
+/?	15	c.2066T>G + c.678_684del	-	r.(?)	p.(Ile689Ser)	CHAT_00029	-	germline (inherited)	Schara 2010	DNA	SEQ	-	-	myasthenic syndrome, congenital	{PMID19900826:Schara 2010}	MGZ-München	-	Lebanon	-	M	unknown	-	-	1	-	-
+/?	15	c.2066T>G + c.2066T>G	-	r.(?)	p.(Ile689Ser)	CHAT_00029	-	germline (inherited)	-	DNA	PCR, SEQ	-	-	CMS	-	United States:Marshfield, WI	-	United States	Lebanese	M	familial, autosomal recessive	-	-	1	-	-
+/?	15	c.2081C>G	-	r.(?)	p.(?)	CHAT_00012	-	germline (inherited)	Maselli 2003	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	15	c.2081C>G + c.1061C>T	-	r.(?)	p.(Ser694Cys)	CHAT_00012	-	germline (inherited)	Barisic 2005	DNA	SEQ	-	BfaI+	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID15701560:Barisic 2005}	MGZ-München	2-generation family, unaffected carrier parents	Croatia	-	M	isolated (sporadic)	no	-	1	-	-
+/?	15	c.2081C>G + c.1061C>T	-	r.(?)	p.(Ser694Cys)	CHAT_00012	-	germline (inherited)	Barisic 2005	DNA	SEQ	-	BfaI+	myasthenic syndrome, congenital, episodic apnea (CMS-EA)	{PMID15701560:Barisic 2005}	MGZ-München	3-generation family, unaffected carrier parents/grandparents	Croatia	-	F	isolated (sporadic)	no	-	1	-	-
+/?	15	c.2110T>C	-	r.(?)	p.(?)	CHAT_00017	-	germline (inherited)	Yeung 2009	DNA	SEQ	-	-	myasthenic syndrome, congenital, episodic apnea	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	15	c.2110T>C + c.1658C>A	-	r.(?)	p.(Ser704Pro)	CHAT_00017	-	germline (inherited)	-	DNA	CSCE	-	-	myasthenic syndrome, congenital	-	United States:Rochester	-	(United States)	-	F	isolated (sporadic)	no	-	2	-	-

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Legend: [ CHAT 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 CHAT 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) 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

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Choline O-acetyltransferase (CHAT)