rs80356694

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 rs80356694(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143339290

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356694
dbSNP (classic)	rs80356694
ClinGen	rs80356694
ebi	rs80356694
HLI	rs80356694
Exac	rs80356694
Gnomad	rs80356694
Varsome	rs80356694
LitVar	rs80356694
Map	rs80356694
PheGenI	rs80356694
Biobank	rs80356694
1000 genomes	rs80356694
hgdp	rs80356694
ensembl	rs80356694
geneview	rs80356694
scholar	rs80356694
google	rs80356694
pharmgkb	rs80356694
gwascentral	rs80356694
openSNP	rs80356694
23andMe	rs80356694
SNPshot	rs80356694
SNPdbe	rs80356694
MSV3d	rs80356694
GWAS Ctlg	rs80356694

Merged from

Rs121912802

Max Magnitude

4

OMIM	118425
Desc
Variant	0006
Related	also

ClinVar
Risk	rs80356694(T;T)
Alt	rs80356694(T;T)
Reference	Rs80356694(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.143036383C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019089.23, RCV000020101.1,

[PMID 8112288] Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).

[PMID 8845168] Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.

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