COL4A5 c.500del ;(p.P167Qfs*36)

Variant ID: X-107816836-GC-G

NM_033380.2(COL4A5):c.500del;(p.P167Qfs*36)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Novel deletion mutation in a Chinese family with X-linked alport syndrome.

International Journal Of Clinical And Experimental Pathology
Li, Yongzhen Y; He, Qingnan Q; Wang, Yanran Y; Wang, Ying Y; Dang, Xiqiang X; Wu, Xiaochuan X; Li, Xiaoyan X; Shuai, Lanjun L; Yi, Zhuwen Z
Publication Date: 2018

Variant appearance in text: COL4A5: 499delC
PubMed Link: 31949866
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human Genetic Diseases.

Biomed Research International
Deng, Hao H; Riederer, Peter P; Deng, Han-Xiang HX; Le, Weidong W; Xiong, Wei W; Guo, Yi Y
Publication Date: 2015

Variant appearance in text: COL4A5: 499delC; Pro167Glnfs
PubMed Link: 26078946
Variant Present in the following documents:
  • BMRI2015-315216.pdf
View BVdb publication page



A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.

Biomed Research International
Xiu, Xiaofei X; Yuan, Jinzhong J; Deng, Xiong X; Xiao, Jingjing J; Xu, Hongbo H; Zeng, Zhaoyang Z; Guan, Liping L; Xu, Fengping F; Deng, Sheng S
Publication Date: 2014

Variant appearance in text: COL4A5: 499delC; Pro167Glnfs
PubMed Link: 25110662
Variant Present in the following documents:
  • Main text
  • BMRI2014-186048.pdf
View BVdb publication page