rs80356696

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	4	Myotonia congenita; Thomsen's disease; quite variable in degree

Make rs80356696(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143342001

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356696
dbSNP (classic)	rs80356696
ClinGen	rs80356696
ebi	rs80356696
HLI	rs80356696
Exac	rs80356696
Gnomad	rs80356696
Varsome	rs80356696
LitVar	rs80356696
Map	rs80356696
PheGenI	rs80356696
Biobank	rs80356696
1000 genomes	rs80356696
hgdp	rs80356696
ensembl	rs80356696
geneview	rs80356696
scholar	rs80356696
google	rs80356696
pharmgkb	rs80356696
gwascentral	rs80356696
openSNP	rs80356696
23andMe	rs80356696
SNPshot	rs80356696
SNPdbe	rs80356696
MSV3d	rs80356696
GWAS Ctlg	rs80356696

Merged from

Rs121912803

Max Magnitude

4

rs80356696, also known as c.1655A>G or p.Gln552Arg, is a mutation in the CLCN1 gene on chromosome 7.

Acting in an autosomal dominant manner, the rs80356696(G) allele is considered to cause Thomsen's myotonia congenita; see also OMIM 118425.0007

Note that 23andMe refers to this SNP as i5003260.

OMIM	118425
Desc
Variant	0007
Related	also

ClinVar
Risk	rs80356696(G;G) rs80356696(T;T)
Alt	rs80356696(G;G) rs80356696(T;T)
Reference	Rs80356696(A;A)
Significance	Pathogenic
Disease	Myotonia levior Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia levior Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143039094A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019090.27, RCV000020103.1,

[PMID 7581380] Myotonia levior is a chloride channel disorder.

[PMID 12456816] A novel alteration of muscle chloride channel gating in myotonia levior.