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rs80338785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 3 possibility of Hypokalemic periodic paralysis
(C;C) 0 common in complete genomics


Make rs80338785(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position63959270
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338785
ebirs80338785
HLIrs80338785
Exacrs80338785
Varsomers80338785
Maprs80338785
PheGenIrs80338785
hapmaprs80338785
1000 genomesrs80338785
hgdprs80338785
ensemblrs80338785
gopubmedrs80338785
geneviewrs80338785
scholarrs80338785
googlers80338785
pharmgkbrs80338785
gwascentralrs80338785
openSNPrs80338785
23andMers80338785
23andMe allrs80338785
SNP Nexus

SNPshotrs80338785
SNPdbers80338785
MSV3drs80338785
GWAS Ctlgrs80338785
Max Magnitude3
OMIM603967
Desc
Variant0017
Relatedalso
OMIM603967
Desc
Variant0020
Relatedalso
ClinVar
Risk rs80338785(A,G,T;A,G,T)
Alt rs80338785(A,G,T;A,G,T)
Reference rs80338785(C;C)
Significance Pathogenic
Disease Hypokalemic periodic paralysis 1 Hyperkalemic Periodic Paralysis Type 1 Hypokalemic periodic paralysis
Variation info
Gene SCN4A
CLNDBN Hypokalemic periodic paralysis 1 Hyperkalemic Periodic Paralysis Type 1 Hypokalemic periodic paralysis, type 2
Reversed 1
HGVS NC_000017.10:g.62036630G>A; NC_000017.10:g.62036630G>C; NC_000017.10:g.62036630G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020263.1, RCV000206949.1, RCV000006276.4, RCV000020262.1, RCV000206901.1, RCV000006279.4, RCV000020261.1, RCV000206986.1,


[PMID 11558801] Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.


[PMID 11591859] Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.


[PMID 15557532] SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.


[PMID 10944223OA-icon.png] Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.


[PMID 15482957] Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.