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rs28930068

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5 Hypokalemic periodic paralysis risk
(A;G) 3.5 Hypokalemic periodic paralysis risk
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position201053538
GeneCACNA1S
is asnp
is mentioned by
dbSNPrs28930068
ebirs28930068
HLIrs28930068
Exacrs28930068
Varsomers28930068
Maprs28930068
PheGenIrs28930068
hapmaprs28930068
1000 genomesrs28930068
hgdprs28930068
ensemblrs28930068
gopubmedrs28930068
geneviewrs28930068
scholarrs28930068
googlers28930068
pharmgkbrs28930068
gwascentralrs28930068
openSNPrs28930068
23andMers28930068
23andMe allrs28930068
SNP Nexus

SNPshotrs28930068
SNPdbers28930068
MSV3drs28930068
GWAS Ctlgrs28930068
Max Magnitude5

rs28930068, also known as R1239H or Arg1239His, is a SNP in the CACNA1S gene on chromosome 1.

Carrying one copy of a rs28930068(A) allele is sufficient to result in patients with 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
Variant0001
Relatedalso
Neighborrs28930069
Distance1


ClinVar
Risk rs28930068(A;A)
Alt rs28930068(A;A)
Reference rs28930068(G;G)
Significance Pathogenic
Disease Hypokalemic periodic paralysis 1
Variation info
Gene CACNA1S
CLNDBN Hypokalemic periodic paralysis 1
Reversed 1
HGVS NC_000001.10:g.201022666C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019190.28,



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


[PMID 7847370OA-icon.png] Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.


[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.