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KCNH2 c.1653C>A ;(p.F551L)
Variant ID: 7-150648828-G-T
NM_000238.3(
KCNH2
):c.1653C>A;(p.F551L)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.
Molecular Pharmacology
Grunnet, Morten M; Abbruzzese, Jennifer J; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2011-01
Variant appearance in text: LQT2: F551L
PubMed Link:
20876384
Variant Present in the following documents:
Main text
View BVdb publication page