Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4 Myotonia congenita; Thomsen's disease; quite variable in degree
Make rs80356696(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position143342001
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356696
ebirs80356696
HLIrs80356696
Exacrs80356696
Varsomers80356696
Maprs80356696
PheGenIrs80356696
hapmaprs80356696
1000 genomesrs80356696
hgdprs80356696
ensemblrs80356696
gopubmedrs80356696
geneviewrs80356696
scholarrs80356696
googlers80356696
pharmgkbrs80356696
gwascentralrs80356696
openSNPrs80356696
23andMers80356696
23andMe allrs80356696
SNP Nexus

SNPshotrs80356696
SNPdbers80356696
MSV3drs80356696
GWAS Ctlgrs80356696
Merged fromRs121912803
Max Magnitude4

rs80356696, also known as c.1655A>G or p.Gln552Arg, is a mutation in the CLCN1 gene on chromosome 7.

Acting in an autosomal dominant manner, the rs80356696(G) allele is considered to cause Thomsen's myotonia congenita; see also OMIM 118425.0007

Note that 23andMe refers to this SNP as i5003260.

OMIM118425
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80356696(G,T;G,T)
Alt rs80356696(G,T;G,T)
Reference rs80356696(A;A)
Significance Pathogenic
Disease Myotonia levior Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia levior Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143039094A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019090.27, RCV000020103.1,


[PMID 7581380] Myotonia levior is a chloride channel disorder.

[PMID 12456816OA-icon.png] A novel alteration of muscle chloride channel gating in myotonia levior.