COL4A5 c.4069G>C ;(p.G1357R)

Variant ID: X-107924168-G-C

NM_033380.2(COL4A5):c.4069G>C;(p.G1357R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.

Kidney International Reports
Aoto, Yuya Y; Horinouchi, Tomoko T; Yamamura, Tomohiko T; Kondo, Atsushi A; Nagai, Sadayuki S; Ishiko, Shinya S; Okada, Eri E; Rossanti, Rini R; Sakakibara, Nana N; Nagano, China C; Awano, Hiroyuki H; Nagase, Hiroaki H; Shima, Yuko Y; Nakanishi, Koichi K; Matsuo, Masafumi M; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2022-01

Variant appearance in text: COL4A5: 4069G>C; Gly1357Arg
PubMed Link: 35005319
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page