ADAR c.2894C>A ;(p.P965Q)

Variant ID: 1-154560726-G-T

NM_001111.4(ADAR):c.2894C>A;(p.P965Q)

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:

Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria.

Genetic Testing And Molecular Biomarkers
Tang, Zhuang-Li ZL; Wang, Shuang S; Tu, Chen C; Wang, Tian T; Ma, Cheng-Wen CW; Liu, Yan Y; Xiao, Sheng-Xiang SX; Wang, Xiao-Peng XP
Publication Date: 2018-02

Variant appearance in text: ADAR1: 2894C>A
PubMed Link: 29185800
Variant Present in the following documents:
  • Main text
  • gtmb.2017.0207.pdf
View BVdb publication page