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rs80356700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Myotonia congenita; Thomsen's disease; quite variable in degree
(G;G) 0 common in clinvar


Make rs80356700(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position143321841
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356700
ebirs80356700
HLIrs80356700
Exacrs80356700
Varsomers80356700
Maprs80356700
PheGenIrs80356700
hapmaprs80356700
1000 genomesrs80356700
hgdprs80356700
ensemblrs80356700
gopubmedrs80356700
geneviewrs80356700
scholarrs80356700
googlers80356700
pharmgkbrs80356700
gwascentralrs80356700
openSNPrs80356700
23andMers80356700
23andMe allrs80356700
SNP Nexus

SNPshotrs80356700
SNPdbers80356700
MSV3drs80356700
GWAS Ctlgrs80356700
Merged fromRs121912800
Max Magnitude4

rs80356700, also known as Gly230Glu or G230E, is a SNP in the CLCN1 gene on chromosome 7.

rs80356700(A) is considered causative for Thomsen's disease, a form of autosomal dominant myotonia congenita.

23andMe refers to this SNP as i5003264.

OMIM118425
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356700(A;A)
Alt rs80356700(A;A)
Reference rs80356700(G;G)
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.143018934G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019084.27, RCV000020113.1,


[PMID 7981750] Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).


[PMID 9122265OA-icon.png] A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.