rs80356706

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	2.5	carrier of a myotonia congenita allele; variable in degree
(T;T)	6	Myotonia congenita; quite variable in degree

Reference

GRCh38 38.1/141

Chromosome

7

Position

143351793

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356706
dbSNP (classic)	rs80356706
ClinGen	rs80356706
ebi	rs80356706
HLI	rs80356706
Exac	rs80356706
Gnomad	rs80356706
Varsome	rs80356706
LitVar	rs80356706
Map	rs80356706
PheGenI	rs80356706
Biobank	rs80356706
1000 genomes	rs80356706
hgdp	rs80356706
ensembl	rs80356706
geneview	rs80356706
scholar	rs80356706
google	rs80356706
pharmgkb	rs80356706
gwascentral	rs80356706
openSNP	rs80356706
23andMe	rs80356706
SNPshot	rs80356706
SNPdbe	rs80356706
MSV3d	rs80356706
GWAS Ctlg	rs80356706

Merged from

Rs121912808

Max Magnitude

6

rs80356706 is a mutation in the CLCN1 gene on chromosome 7.

Acting in either an autosomal dominant or recessive manner, the rs80356706(T) allele is considered to cause myotonia congenita; see also OMIM 118425.0014

Note that 23andMe refers to this SNP as i5003255.

OMIM	118425
Desc
Variant	0014
Related	also

ClinVar
Risk	Rs80356706(T;T)
Alt	Rs80356706(T;T)
Reference	Rs80356706(C;C)
Significance	Pathogenic
Disease	Congenital myotonia Myotonia congenita not specified
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal recessive form Myotonia congenita not specified
Reversed	0
HGVS	NC_000007.13:g.143048886C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019085.28, RCV000020108.1, RCV000478940.1,

[PMID 11113225] A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.