COL4A5 c.4024G>C ;(p.G1342R)

Variant ID: X-107924123-G-C

NM_033380.2(COL4A5):c.4024G>C;(p.G1342R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.

European Journal Of Human Genetics : Ejhg
Zhang, Yanqin Y; Ding, Jie J; Wang, Suxia S; Zhang, Hongwen H; Zhong, Xuhui X; Liu, Xiaoyu X; Xu, Ke K; Wang, Fang F
Publication Date: 2020-02

Variant appearance in text: COL4A5: Gly1342Arg
PubMed Link: 31576025
Variant Present in the following documents:
  • Main text
  • 41431_2019_Article_523.pdf
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: COL4A5: G1342R
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page