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COL4A5 c.4069G>A ;(p.G1357R)
Variant ID: X-107924168-G-A
NM_033380.2(
COL4A5
):c.4069G>A;(p.G1357R)
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: 4069G>A; Gly1357Arg
PubMed Link:
35005319
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page