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KCNH2 c.1231G>A ;(p.D411N)
Variant ID: 7-150649839-C-T
NM_000238.3(
KCNH2
):c.1231G>A;(p.D411N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The Fast Component of hERG Gating Charge: An Interaction between D411 in the S1 and S4 Residues.
Biophysical Journal
Dou, Ying Y; Macdonald, Logan C LC; Wu, Yue Y; Fedida, David D
Publication Date: 2017-11-07
Variant appearance in text: Kv11.1: D411N
PubMed Link:
29117522
Variant Present in the following documents:
Main text
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: 1231G>A
PubMed Link:
25649125
Variant Present in the following documents:
13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page