rs80356702

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	6	Myotonia congenita; quite variable in degree
(A;G)	3	Myotonia congenita; quite variable in degree
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

143330868

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356702
dbSNP (classic)	rs80356702
ClinGen	rs80356702
ebi	rs80356702
HLI	rs80356702
Exac	rs80356702
Gnomad	rs80356702
Varsome	rs80356702
LitVar	rs80356702
Map	rs80356702
PheGenI	rs80356702
Biobank	rs80356702
1000 genomes	rs80356702
hgdp	rs80356702
ensembl	rs80356702
geneview	rs80356702
scholar	rs80356702
google	rs80356702
pharmgkb	rs80356702
gwascentral	rs80356702
openSNP	rs80356702
23andMe	rs80356702
SNPshot	rs80356702
SNPdbe	rs80356702
MSV3d	rs80356702
GWAS Ctlg	rs80356702

Merged from

Rs121912806

Max Magnitude

6

rs80356702, also known as c.950G>A or p.Arg317Gln, is a mutation in the CLCN1 gene on chromosome 7.

Acting in either an autosomal dominant or recessive manner, the rs80356702(A) allele is considered to cause myotonia congenita; see also OMIM 118425.0011

Note that 23andMe refers to this SNP as i5003257.

OMIM	118425
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs80356702(A;A)
Alt	Rs80356702(A;A)
Reference	Rs80356702(G;G)
Significance	Pathogenic
Disease	Congenital myotonia Congenital myotonia Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143027961G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019094.28, RCV000019095.28, RCV000020121.1,

[PMID 8533761] Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.