COL4A5 c.2350G>C ;(p.G784R)

Variant ID: X-107850077-G-C

NM_033380.2(COL4A5):c.2350G>C;(p.G784R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Type IV Collagen Mutations in Familial IgA Nephropathy.

Kidney International Reports
Li, Yifu Y; Groopman, Emily E EE; D'Agati, Vivette V; Prakash, Sindhuri S; Zhang, Junying J; Mizerska-Wasiak, Malgorzata M; Caliskan, Yasar Y; Fasel, David D; Karnib, Hussein H HH; Bono, Luisa L; Omran, Sadek Al SA; Sabban, Essam Al EA; Kiryluk, Krzysztof K; Caridi, Gianluca G; Ghiggeri, Gian Marco GM; Sanna-Cherchi, Simone S; Scolari, Francesco F; Gharavi, Ali G AG
Publication Date: 2020-07

Variant appearance in text: COL4A5: 2350G>C; G784R
PubMed Link: 32647767
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page