COL4A5 c.358G>A ;(p.G120S)

Variant ID: X-107812025-G-A

NM_033380.2(COL4A5):c.358G>A;(p.G120S)

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:

Alport Syndrome With Kidney Cysts Is Still Alport Syndrome.

Kidney International Reports
Savige, Judy J; Mack, Heather H; Thomas, Rose R; Langsford, David D; Pianta, Tim T
Publication Date: 2022-02

Variant appearance in text: COL4A5: 358G>A; Gly120Ser
PubMed Link: 35155874
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page