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rs80338777

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 possibility of Hypokalemic periodic paralysis
(G;G) 0 common in clinvar


Make rs80338777(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position201077915
GeneCACNA1S
is asnp
is mentioned by
dbSNPrs80338777
ebirs80338777
HLIrs80338777
Exacrs80338777
Varsomers80338777
Maprs80338777
PheGenIrs80338777
hapmaprs80338777
1000 genomesrs80338777
hgdprs80338777
ensemblrs80338777
gopubmedrs80338777
geneviewrs80338777
scholarrs80338777
googlers80338777
pharmgkbrs80338777
gwascentralrs80338777
openSNPrs80338777
23andMers80338777
23andMe allrs80338777
SNP Nexus

SNPshotrs80338777
SNPdbers80338777
MSV3drs80338777
GWAS Ctlgrs80338777
Max Magnitude3
OMIM114208
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338777(A;A)
Alt rs80338777(A;A)
Reference rs80338777(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.201047043C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019192.24,


[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 7897626OA-icon.png] Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.


[PMID 7987325] A calcium channel mutation causing hypokalemic periodic paralysis.


[PMID 10074484OA-icon.png] Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis.


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