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KCNH2 c.3046C>T ;(p.P1016S)
Variant ID: 7-150644522-G-A
NM_000238.3(
KCNH2
):c.3046C>T;(p.P1016S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: LQT2: P1016S; rs41307280
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: KCNH2: P1016S
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015
Variant appearance in text: KCNH2: 3046C>T
PubMed Link:
25649125
Variant Present in the following documents:
13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page
In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12
Variant appearance in text: rs41307280
PubMed Link:
19214780
Variant Present in the following documents:
Main text
View BVdb publication page