COL4A5 c.4112del ;(p.S1371*)

Variant ID: X-107925014-TC-T

NM_033380.2(COL4A5):c.4112del;(p.S1371*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 4112delC; S1371*
PubMed Link: 28542346
Variant Present in the following documents:
  • Main text
  • pone.0177685.pdf
View BVdb publication page