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rs80356702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Myotonia congenita; quite variable in degree
(A;G) 3 Myotonia congenita; quite variable in degree
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position143330868
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356702
ebirs80356702
HLIrs80356702
Exacrs80356702
Varsomers80356702
Maprs80356702
PheGenIrs80356702
hapmaprs80356702
1000 genomesrs80356702
hgdprs80356702
ensemblrs80356702
gopubmedrs80356702
geneviewrs80356702
scholarrs80356702
googlers80356702
pharmgkbrs80356702
gwascentralrs80356702
openSNPrs80356702
23andMers80356702
23andMe allrs80356702
SNP Nexus

SNPshotrs80356702
SNPdbers80356702
MSV3drs80356702
GWAS Ctlgrs80356702
Merged fromRs121912806
Max Magnitude6

rs80356702, also known as c.950G>A or p.Arg317Gln, is a mutation in the CLCN1 gene on chromosome 7.

Acting in either an autosomal dominant or recessive manner, the rs80356702(A) allele is considered to cause myotonia congenita; see also OMIM 118425.0011

Note that 23andMe refers to this SNP as i5003257.

OMIM118425
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80356702(A;A)
Alt rs80356702(A;A)
Reference rs80356702(G;G)
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.143027961G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019094.27, RCV000019095.27, RCV000020121.1,


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