rs121912810

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4	Myotonia congenita; Thomsen's disease; quite variable in degree

Make rs121912810(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143321718

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs121912810
dbSNP (classic)	rs121912810
ClinGen	rs121912810
ebi	rs121912810
HLI	rs121912810
Exac	rs121912810
Gnomad	rs121912810
Varsome	rs121912810
LitVar	rs121912810
Map	rs121912810
PheGenI	rs121912810
Biobank	rs121912810
1000 genomes	rs121912810
hgdp	rs121912810
ensembl	rs121912810
geneview	rs121912810
scholar	rs121912810
google	rs121912810
pharmgkb	rs121912810
gwascentral	rs121912810
openSNP	rs121912810
23andMe	rs121912810
SNPshot	rs121912810
SNPdbe	rs121912810
MSV3d	rs121912810
GWAS Ctlg	rs121912810

Max Magnitude

4

rs121912810, also known as p.Ser189Phe, is a mutation in the CLCN1 gene on chromosome 7.

Acting in an autosomal dominant manner, the rs121912810(T) allele is considered to cause Thomsen's myotonia congenita; see also OMIM 118425.0018

Note that 23andMe refers to this SNP as i5003253.

OMIM	118425
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121912810(T;T)
Alt	rs121912810(T;T)
Reference	Rs121912810(C;C)
Significance	Pathogenic
Disease	Congenital myotonia
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal dominant form
Reversed	0
HGVS	NC_000007.13:g.143018811C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019102.24,