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rs80356694

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
Chromosome7
Position143339290
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356694
ebirs80356694
HLIrs80356694
Exacrs80356694
Varsomers80356694
Maprs80356694
PheGenIrs80356694
hapmaprs80356694
1000 genomesrs80356694
hgdprs80356694
ensemblrs80356694
gopubmedrs80356694
geneviewrs80356694
scholarrs80356694
googlers80356694
pharmgkbrs80356694
gwascentralrs80356694
openSNPrs80356694
23andMers80356694
23andMe allrs80356694
SNP Nexus

SNPshotrs80356694
SNPdbers80356694
MSV3drs80356694
GWAS Ctlgrs80356694
Merged fromRs121912802
Max Magnitude4
OMIM118425
Desc
Variant0006
Relatedalso
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
CLNACC RCV000019089.23, RCV000020101.1,


[PMID 8112288OA-icon.png] 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.