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KCNH2 c.2960del ;(p.L987Rfs*70)
Variant ID: 7-150644699-CA-C
NM_000238.3(
KCNH2
):c.2960del;(p.L987Rfs*70)
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:
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Frontiers In Cardiovascular Medicine
Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J
Publication Date: 2022
Variant appearance in text: LQT2: 2960del
PubMed Link:
35647048
Variant Present in the following documents:
Main text
fcvm-09-889519.pdf
View BVdb publication page
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.
Journal Of The American Heart Association
Seethala, Srikanth S; Singh, Prabhpreet P; Shusterman, Vladimir V; Ribe, Margareth M; Haugaa, Kristina H KH; Němec, Jan J
Publication Date: 2015-12-16
Variant appearance in text: LQT2: 2960delT
PubMed Link:
26675252
Variant Present in the following documents:
Main text
JAH3-4-e002395.pdf
View BVdb publication page