COL4A5 c.3904C>T ;(p.P1302S)

Variant ID: X-107920825-C-T

NM_033380.2(COL4A5):c.3904C>T;(p.P1302S)

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:

Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.

Molecular Genetics & Genomic Medicine
Horinouchi, Tomoko T; Yamamura, Tomohiko T; Minamikawa, Shogo S; Nagano, China C; Sakakibara, Nana N; Nakanishi, Koichi K; Shima, Yuko Y; Morisada, Naoya N; Ishiko, Shinya S; Aoto, Yuya Y; Nagase, Hiroaki H; Takeda, Hiroki H; Rossanti, Rini R; Ishimori, Shingo S; Kaito, Hiroshi H; Matsuo, Masafumi M; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2020-08

Variant appearance in text: COL4A5: 3904C>T
PubMed Link: 32543079
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1342.pdf
View BVdb publication page