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rs28930069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3.5 Hypokalemic periodic paralysis risk
(G;G) 5 Hypokalemic periodic paralysis risk
ReferenceGRCh38 38.1/141
Chromosome1
Position201053539
GeneCACNA1S
is asnp
is mentioned by
dbSNPrs28930069
ebirs28930069
HLIrs28930069
Exacrs28930069
Varsomers28930069
Maprs28930069
PheGenIrs28930069
hapmaprs28930069
1000 genomesrs28930069
hgdprs28930069
ensemblrs28930069
gopubmedrs28930069
geneviewrs28930069
scholarrs28930069
googlers28930069
pharmgkbrs28930069
gwascentralrs28930069
openSNPrs28930069
23andMers28930069
23andMe allrs28930069
SNP Nexus

SNPshotrs28930069
SNPdbers28930069
MSV3drs28930069
GWAS Ctlgrs28930069
Max Magnitude5

rs28930069, also known as R1239G or Arg1239Gly, is a SNP in the CACNA1S gene on chromosome 1.

The rs28930069(G) allele has been reported in a family study to be the basis for their hypokalemic periodic paralysis, type 1.[PMID 8004673]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

OMIM114208
DescHYPOKALEMIC PERIODIC PARALYSIS
Variant0002
Relatedalso
Neighborrs28930068
Distance1


ClinVar
Risk rs28930069(G;G)
Alt rs28930069(G;G)
Reference rs28930069(C;C)
Significance Pathogenic
Disease Hypokalemic periodic paralysis 1
Variation info
Gene CACNA1S
CLNDBN Hypokalemic periodic paralysis 1
Reversed 1
HGVS NC_000001.10:g.201022667G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019191.28,



[PMID 3037387] Primary structure of the receptor for calcium channel blockers from skeletal muscle.


[PMID 8004673] Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.


[PMID 11353725] Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.