ADAR c.976A>G ;(p.K326E)

Variant ID: 1-154574142-T-C

NM_001111.4(ADAR):c.976A>G;(p.K326E)

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:

Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China.

Molecular Genetics & Genomic Medicine
Wang, Peng P; Yu, Shirong S; Liu, Jianyong J; Zhang, Dezhi D; Kang, Xiaojing X
Publication Date: 2019-10

Variant appearance in text: ADAR: Lys326Glu
PubMed Link: 31423758
Variant Present in the following documents:
  • Main text
  • MGG3-7-e00905.pdf
View BVdb publication page