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rs28928904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(G;G) 3 possibly increased susceptibility to long QT syndrome
(G;T) 3 possibly increased susceptibility to long QT syndrome
(T;T) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome7
Position150951615
GeneKCNH2
is asnp
is mentioned by
dbSNPrs28928904
ebirs28928904
HLIrs28928904
Exacrs28928904
Varsomers28928904
Maprs28928904
PheGenIrs28928904
hapmaprs28928904
1000 genomesrs28928904
hgdprs28928904
ensemblrs28928904
gopubmedrs28928904
geneviewrs28928904
scholarrs28928904
googlers28928904
pharmgkbrs28928904
gwascentralrs28928904
openSNPrs28928904
23andMers28928904
23andMe allrs28928904
SNP Nexus

SNPshotrs28928904
SNPdbers28928904
MSV3drs28928904
GWAS Ctlgrs28928904
Max Magnitude3

rs28928904, also known as I593R or Ile593Arg, is a SNP in the KCNH2 gene on chromosome 7.

A 1996 publication reports that the rs28928904(G) allele is associated with long QT syndrome 2.[PMID 8635257]

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]

OMIM152427
DescLONG QT SYNDROME 2
Variant0004
Relatedalso
Neighborrs28928905
Distance899


ClinVar
Risk rs28928904(A,C,G;A,C,G)
Alt rs28928904(A,C,G;A,C,G)
Reference rs28928904(T;T)
Significance Pathogenic
Disease Long QT syndrome 2 Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150648703A>C; NC_000007.13:g.150648703A>G; NC_000007.13:g.150648703A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015504.25, RCV000057986.2, RCV000057985.2, RCV000181818.1, RCV000057984.2,



[PMID 19214780OA-icon.png] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).


[PMID 8635257] Missense mutation in the pore region of HERG causes familial long QT syndrome.


[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.


[PMID 16432067] Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.


[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.


[PMID 19716085OA-icon.png] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.