rs55960271

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Myotonia congenita; quite variable in degree
(T;T)	6	Myotonia congenita; quite variable in degree

Reference

GRCh38 38.1/141

Chromosome

7

Position

143351678

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs55960271
dbSNP (classic)	rs55960271
ClinGen	rs55960271
ebi	rs55960271
HLI	rs55960271
Exac	rs55960271
Gnomad	rs55960271
Varsome	rs55960271
LitVar	rs55960271
Map	rs55960271
PheGenI	rs55960271
Biobank	rs55960271
1000 genomes	rs55960271
hgdp	rs55960271
ensembl	rs55960271
geneview	rs55960271
scholar	rs55960271
google	rs55960271
pharmgkb	rs55960271
gwascentral	rs55960271
openSNP	rs55960271
23andMe	rs55960271
SNPshot	rs55960271
SNPdbe	rs55960271
MSV3d	rs55960271
GWAS Ctlg	rs55960271

GMAF

0.003214

Max Magnitude

6

OMIM	118425
Desc
Variant	0015
Related	also

ClinVar
Risk	rs55960271(A;A) Rs55960271(T;T)
Alt	rs55960271(A;A) Rs55960271(T;T)
Reference	Rs55960271(C;C)
Significance	Other
Disease	Congenital myotonia Congenital myotonia Myotonia congenita not provided
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Myotonia congenita not provided
Reversed	0
HGVS	NC_000007.13:g.143048771C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019098.29, RCV000019099.29, RCV000020107.2, RCV000292791.2,

[PMID 8533761] Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

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