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KCNH2 c.1872T>A ;(p.S624R)
Variant ID: 7-150648609-A-T
NM_000238.3(
KCNH2
):c.1872T>A;(p.S624R)
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:
Successful prenatal management of ventricular tachycardia and second-degree atrioventricular block in fetal long QT syndrome.
Heartrhythm Case Reports
Miyake, Akira A; Sakaguchi, Heima H; Miyazaki, Aya A; Miyoshi, Takekazu T; Aiba, Takeshi T; Shiraishi, Isao I
Publication Date: 2017-01
Variant appearance in text: KCNH2: S624R
PubMed Link:
28491768
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page