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HR c.983C>G ;(p.S328*)
Variant ID: 8-21984972-G-C
NM_005144.4(
HR
):c.983C>G;(p.S328*)
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:
Whole-Exome Sequencing Identified a De Novo Mutation of Junction Plakoglobin (p.R577C) in a Chinese Patient with Arrhythmogenic Right Ventricular Cardiomyopathy.
Biomed Research International
Liu, Lv L; Chen, Chan C; Li, YaLi Y; Yu, Rong R
Publication Date: 2019
Variant appearance in text: HR: 983C>G
PubMed Link:
31275992
Variant Present in the following documents:
Main text
View BVdb publication page