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rs9333649

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 4 associated with long QT syndrome
(C;G) 4 associated with long QT syndrome
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position150951679
GeneKCNH2
is asnp
is mentioned by
dbSNPrs9333649
ebirs9333649
HLIrs9333649
Exacrs9333649
Varsomers9333649
Maprs9333649
PheGenIrs9333649
hapmaprs9333649
1000 genomesrs9333649
hgdprs9333649
ensemblrs9333649
gopubmedrs9333649
geneviewrs9333649
scholarrs9333649
googlers9333649
pharmgkbrs9333649
gwascentralrs9333649
openSNPrs9333649
23andMers9333649
23andMe allrs9333649
SNP Nexus

SNPshotrs9333649
SNPdbers9333649
MSV3drs9333649
GWAS Ctlgrs9333649
Max Magnitude4

rs9333649, also known as G572R or Gly572Arg, is a SNP in the KCNH2 gene on chromosome 7.

Carrying one copy of the rs9333649(C) allele has been reported at least twice to be associated with 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
Desc
Variant0010
Relatedalso


ClinVar
Risk rs9333649(A,C,T;A,C,T)
Alt rs9333649(A,C,T;A,C,T)
Reference rs9333649(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome 2 not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome 2 not provided
Reversed 1
HGVS NC_000007.13:g.150648767C>A; NC_000007.13:g.150648767C>G; NC_000007.13:g.150648767C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000057961.2, RCV000015510.23, RCV000057960.2, RCV000057959.2, RCV000181811.2,



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

[PMID 9693036] Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

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

[PMID 20931] Calorimetric and equilibrium binding studies of the interaction of substrates with glutamine synthetase of Escherichia coli.

[PMID 10220146] High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.

[PMID 10735633] Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

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

[PMID 11468227] Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.

[PMID 11668638] Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.

[PMID 18752] Effect of apomorphine on the antinociceptive activity of morphine.

[PMID 15176425] Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

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

[PMID 16831322] [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].

[PMID 17905336] Long QT and Brugada syndrome gene mutations in New Zealand.