rs80356699

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 rs80356699(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143320744

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356699
dbSNP (classic)	rs80356699
ClinGen	rs80356699
ebi	rs80356699
HLI	rs80356699
Exac	rs80356699
Gnomad	rs80356699
Varsome	rs80356699
LitVar	rs80356699
Map	rs80356699
PheGenI	rs80356699
Biobank	rs80356699
1000 genomes	rs80356699
hgdp	rs80356699
ensembl	rs80356699
geneview	rs80356699
scholar	rs80356699
google	rs80356699
pharmgkb	rs80356699
gwascentral	rs80356699
openSNP	rs80356699
23andMe	rs80356699
SNPshot	rs80356699
SNPdbe	rs80356699
MSV3d	rs80356699
GWAS Ctlg	rs80356699

Merged from

Rs121912809

Max Magnitude

4

rs80356699 is a mutation in the CLCN1 gene on chromosome 7.

Acting in an autosomal dominant manner, the rs80356699(G) allele is considered to cause Thomsen's myotonia congenita; see also OMIM 118425.0016

Note that 23andMe refers to this SNP as i5003254.

OMIM	118425
Desc
Variant	0016
Related	also

ClinVar
Risk	rs80356699(G;G)
Alt	rs80356699(G;G)
Reference	Rs80356699(A;A)
Significance	Pathogenic
Disease	Congenital myotonia Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal dominant form Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143017837A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019100.28, RCV000020109.1,

[PMID 12661046] Decrement of compound muscle action potential is related to mutation type in myotonia congenita.