COL4A5 c.576dup ;(p.P193Afs*23)

Variant ID: X-107819166-A-AG

NM_033380.2(COL4A5):c.576dup;(p.P193Afs*23)

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:

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type.

Frontiers In Genetics
Wang, Cong C; Liang, Shenghui S; Xing, Shijia S; Xu, Ke K; Xiao, Huijie H; Deng, Haiyue H; Wang, Xiaoyuan X; Chen, Liangyi L; Ding, Jie J; Wang, Fang F
Publication Date: 2020

Variant appearance in text: COL4A5: 574insG; Pro193Alafs*23
PubMed Link: 32117450
Variant Present in the following documents:
  • Main text
  • fgene-11-00036.pdf
View BVdb publication page