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rs28928905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 possible association with long QT syndrome
(A;G) 3 possible association with long QT syndrome
(C;C) 0
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position150952514
GeneKCNH2
is asnp
is mentioned by
dbSNPrs28928905
ebirs28928905
HLIrs28928905
Exacrs28928905
Varsomers28928905
Maprs28928905
PheGenIrs28928905
hapmaprs28928905
1000 genomesrs28928905
hgdprs28928905
ensemblrs28928905
gopubmedrs28928905
geneviewrs28928905
scholarrs28928905
googlers28928905
pharmgkbrs28928905
gwascentralrs28928905
openSNPrs28928905
23andMers28928905
23andMe allrs28928905
SNP Nexus

SNPshotrs28928905
SNPdbers28928905
MSV3drs28928905
GWAS Ctlgrs28928905
Max Magnitude3

rs28928905, also known as Ala490Thr or A490T, is a SNP in the KCNH2 gene on chromosome 7.

The rs28928905(A) allele has been reported to be associated with bradycardia-induced long QT syndrome; see OMIM for discussion.

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, BRADYCARDIA-INDUCED
Variant0011
Relatedalso
Neighborrs28928904
Distance899


ClinVar
Risk rs28928905(A,C;A,C)
Alt rs28928905(A,C;A,C)
Reference rs28928905(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome, bradycardia-induced not provided
Reversed 1
HGVS NC_000007.13:g.150649602C>G; NC_000007.13:g.150649602C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000057911.2, RCV000015511.26, RCV000057910.2, RCV000182022.1,



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


[PMID 11170080] Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.


[PMID 18441445] Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.


[PMID 18808722OA-icon.png] Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.


[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.


[PMID 20975234] Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.


[PMID 17560885] A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome.