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rs80356699

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 rs80356699(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position143320744
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356699
ebirs80356699
HLIrs80356699
Exacrs80356699
Varsomers80356699
Maprs80356699
PheGenIrs80356699
hapmaprs80356699
1000 genomesrs80356699
hgdprs80356699
ensemblrs80356699
gopubmedrs80356699
geneviewrs80356699
scholarrs80356699
googlers80356699
pharmgkbrs80356699
gwascentralrs80356699
openSNPrs80356699
23andMers80356699
23andMe allrs80356699
SNP Nexus

SNPshotrs80356699
SNPdbers80356699
MSV3drs80356699
GWAS Ctlgrs80356699
Merged fromRs121912809
Max Magnitude4

rs80356699 is a mutation in the CLCN1 gene on chromosome 7.

Acting in an autosomal dominant manner, the rs80356699(G) allele is considered to cause Thomsen's myotonia congenita; see also OMIM 118425.0016

Note that 23andMe refers to this SNP as i5003254.

OMIM118425
Desc
Variant0016
Relatedalso
ClinVar
Risk rs80356699(G;G)
Alt rs80356699(G;G)
Reference rs80356699(A;A)
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.143017837A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019100.27, RCV000020109.1,


[PMID 12661046] Decrement of compound muscle action potential is related to mutation type in myotonia congenita.