rs80356690

Orientation

plus

Stabilized

plus

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

Make rs80356690(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143330788

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356690
dbSNP (classic)	rs80356690
ClinGen	rs80356690
ebi	rs80356690
HLI	rs80356690
Exac	rs80356690
Gnomad	rs80356690
Varsome	rs80356690
LitVar	rs80356690
Map	rs80356690
PheGenI	rs80356690
Biobank	rs80356690
1000 genomes	rs80356690
hgdp	rs80356690
ensembl	rs80356690
geneview	rs80356690
scholar	rs80356690
google	rs80356690
pharmgkb	rs80356690
gwascentral	rs80356690
openSNP	rs80356690
23andMe	rs80356690
SNPshot	rs80356690
SNPdbe	rs80356690
MSV3d	rs80356690
GWAS Ctlg	rs80356690

Merged from

Rs121912804

Max Magnitude

4

rs80356690 is a mutation in the CLCN1 gene on chromosome 7.

Acting in an autosomal dominant manner, the rs80356690(G) allele is considered to cause Thomsen's myotonia congenita; see also OMIM 118425.0008

Note that 23andMe refers to this SNP as i5003259.

OMIM	118425
Desc
Variant	0008
Related	also

ClinVar
Risk	rs80356690(G;G) rs80356690(T;T)
Alt	rs80356690(G;G) rs80356690(T;T)
Reference	Rs80356690(C;C)
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.143027881C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019091.27, RCV000020117.1,

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