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rs80356706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2.5 carrier of a myotonia congenita allele; variable in degree
(T;T) 6 Myotonia congenita; quite variable in degree
ReferenceGRCh38 38.1/141
Chromosome7
Position143351793
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356706
ebirs80356706
HLIrs80356706
Exacrs80356706
Varsomers80356706
Maprs80356706
PheGenIrs80356706
hapmaprs80356706
1000 genomesrs80356706
hgdprs80356706
ensemblrs80356706
gopubmedrs80356706
geneviewrs80356706
scholarrs80356706
googlers80356706
pharmgkbrs80356706
gwascentralrs80356706
openSNPrs80356706
23andMers80356706
23andMe allrs80356706
SNP Nexus

SNPshotrs80356706
SNPdbers80356706
MSV3drs80356706
GWAS Ctlgrs80356706
Merged fromRs121912808
Max Magnitude6

rs80356706 is a mutation in the CLCN1 gene on chromosome 7.

Acting in either an autosomal dominant or recessive manner, the rs80356706(T) allele is considered to cause myotonia congenita; see also OMIM 118425.0014

Note that 23andMe refers to this SNP as i5003255.

OMIM118425
Desc
Variant0014
Relatedalso
ClinVar
Risk rs80356706(T;T)
Alt rs80356706(T;T)
Reference rs80356706(C;C)
Significance Pathogenic
Disease Congenital myotonia Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal recessive form Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143048886C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019085.28, RCV000020108.1,


[PMID 11113225] A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.