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rs55960271

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome7
Position143351678
GeneCLCN1
is asnp
is mentioned by
dbSNPrs55960271
ebirs55960271
HLIrs55960271
Exacrs55960271
Varsomers55960271
Maprs55960271
PheGenIrs55960271
hapmaprs55960271
1000 genomesrs55960271
hgdprs55960271
ensemblrs55960271
gopubmedrs55960271
geneviewrs55960271
scholarrs55960271
googlers55960271
pharmgkbrs55960271
gwascentralrs55960271
openSNPrs55960271
23andMers55960271
23andMe allrs55960271
SNP Nexus

SNPshotrs55960271
SNPdbers55960271
MSV3drs55960271
GWAS Ctlgrs55960271
GMAF0.003214
Max Magnitude6
OMIM118425
Desc
Variant0015
Relatedalso


ClinVar
Risk rs55960271(A,T;A,T)
Alt rs55960271(A,T;A,T)
Reference rs55960271(C;C)
Significance Pathogenic
Disease Congenital myotonia Congenital myotonia Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143048771C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019098.28, RCV000019099.28, RCV000020107.1,



[PMID 8533761OA-icon.png] 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.