COL4A5 c.1152del ;(p.P385Lfs*89)

Variant ID: X-107829962-CT-C

NM_033380.2(COL4A5):c.1152del;(p.P385Lfs*89)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.

Molecular Genetics & Genomic Medicine
Zhao, Xuechao X; Chen, Chen C; Wei, Yanfu Y; Zhao, Ganye G; Liu, Lina L; Wang, Conghui C; Zhang, Junjun J; Kong, Xiangdong X
Publication Date: 2019-06

Variant appearance in text: COL4A5: 1151delT; Pro385Leufs
PubMed Link: 30968591
Variant Present in the following documents:
  • Main text
  • MGG3-7-e653.pdf
View BVdb publication page