COL4A5 c.4783G>C ;(p.G1595R)

Variant ID: X-107938113-G-C

NM_033380.2(COL4A5):c.4783G>C;(p.G1595R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Kidney Medicine
Shulman, Cole C; Liang, Emerald E; Kamura, Misato M; Udwan, Khalil K; Yao, Tony T; Cattran, Daniel D; Reich, Heather H; Hladunewich, Michelle M; Pei, York Y; Savige, Judy J; Paterson, Andrew D AD; Suico, Mary Ann MA; Kai, Hirofumi H; Barua, Moumita M
Publication Date: 2021

Variant appearance in text: COL4A5: G1595R
PubMed Link: 33851121
Variant Present in the following documents:
  • main.pdf
View BVdb publication page