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