COL4A5 c.980_983del ;(p.D327Vfs*18)

Variant ID: X-107826154-GGGAT-G

NM_033380.2(COL4A5):c.980_983del;(p.D327Vfs*18)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene.

Frontiers In Medicine
Wu, Wei-Qing WQ; Zhang, Jia-Xun JX; Cui, Ying-Xia YX; Zhang, Ming-Chao MC; Chen, Xiao-Hang XH; Duan, Shan S; Zeng, Cai-Hong CH; Li, Pei-Ning PN; Li, Xiao-Jun XJ
Publication Date: 2023

Variant appearance in text: COL4A5: 980_983del; D327Vfs*18
PubMed Link: 36968823
Variant Present in the following documents:
  • Main text
  • fmed-10-1086756.pdf
View BVdb publication page



Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Plos One
Liu, Jian-Hong JH; Wei, Xiu-Xiu XX; Li, Ang A; Cui, Ying-Xia YX; Xia, Xin-Yi XY; Qin, Wei-Song WS; Zhang, Ming-Chao MC; Gao, Er-Zhi EZ; Sun, Jun J; Gao, Chun-Lin CL; Liu, Feng-Xia FX; Wu, Qiu-Yue QY; Li, Wei-Wei WW; Asan, ; Liu, Zhi-Hong ZH; Li, Xiao-Jun XJ
Publication Date: 2017

Variant appearance in text: COL4A5: 980_983delATGG; D327Vfs*18
PubMed Link: 28542346
Variant Present in the following documents:
  • Main text
  • pone.0177685.pdf
View BVdb publication page