COL4A5 c.4297G>A ;(p.G1433S)

Variant ID: X-107929341-G-A

NM_033380.2(COL4A5):c.4297G>A;(p.G1433S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 4297G>A; Gly1433Ser
PubMed Link: 35005319
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page