rs80356700

Orientation

plus

Stabilized

plus

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

Make rs80356700(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143321841

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356700
dbSNP (classic)	rs80356700
ClinGen	rs80356700
ebi	rs80356700
HLI	rs80356700
Exac	rs80356700
Gnomad	rs80356700
Varsome	rs80356700
LitVar	rs80356700
Map	rs80356700
PheGenI	rs80356700
Biobank	rs80356700
1000 genomes	rs80356700
hgdp	rs80356700
ensembl	rs80356700
geneview	rs80356700
scholar	rs80356700
google	rs80356700
pharmgkb	rs80356700
gwascentral	rs80356700
openSNP	rs80356700
23andMe	rs80356700
SNPshot	rs80356700
SNPdbe	rs80356700
MSV3d	rs80356700
GWAS Ctlg	rs80356700

Merged from

Rs121912800

Max Magnitude

4

rs80356700, also known as Gly230Glu or G230E, is a SNP in the CLCN1 gene on chromosome 7.

rs80356700(A) is considered causative for Thomsen's disease, a form of autosomal dominant myotonia congenita.

23andMe refers to this SNP as i5003264.

OMIM	118425
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80356700(A;A)
Alt	rs80356700(A;A)
Reference	Rs80356700(G;G)
Significance	Pathogenic
Disease	Congenital myotonia Myotonia congenita not provided
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal dominant form Myotonia congenita not provided
Reversed	0
HGVS	NC_000007.13:g.143018934G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019084.27, RCV000020113.1, RCV000291823.1,

[PMID 7981750] Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

[PMID 9122265] A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.