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rs121908548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 4.4 Potassium aggravated myotonia; paramyotonia congenita
(G;G) 0 common in clinvar


Make rs121908548(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941517
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908548
dbSNP (old)rs121908548
ClinGenrs121908548
ebirs121908548
HLIrs121908548
Exacrs121908548
Varsomers121908548
Maprs121908548
PheGenIrs121908548
Biobankrs121908548
1000 genomesrs121908548
hgdprs121908548
ensemblrs121908548
gopubmedrs121908548
geneviewrs121908548
scholarrs121908548
googlers121908548
pharmgkbrs121908548
gwascentralrs121908548
openSNPrs121908548
23andMers121908548
23andMe allrs121908548
SNP Nexus

SNPshotrs121908548
SNPdbers121908548
MSV3drs121908548
GWAS Ctlgrs121908548
Max Magnitude4.4

rs121908548, also known as c.4765G>A, p.Val1589Met and V1589M, represents a rare mutation in the SCN4A gene on chromosome 17.

Based on OMIM, ClinVar designates the mutant allele as pathogenic for paramyotonia congenita, a form of potassium aggravated myotonia that is dominantly inherited. As reported in two families, the clinical description can encompass potassium-aggravated myotonia without muscle weakness and/or cramps in the fingers, toes, and eyelids.

OMIM603967
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908548(A;A)
Alt rs121908548(A;A)
Reference Rs121908548(G;G)
Significance Pathogenic
Disease Potassium aggravated myotonia Paramyotonia congenita of von Eulenburg
Variation info
Gene SCN4A
CLNDBN Potassium aggravated myotonia Paramyotonia congenita of von Eulenburg
Reversed 1
HGVS NC_000017.10:g.62018877C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006267.4, RCV000006268.4,