COL4A5 c.3883C>T ;(p.Q1295*)

Variant ID: X-107920804-C-T

NM_033380.2(COL4A5):c.3883C>T;(p.Q1295*)

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:

A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children.

Case Reports In Nephrology And Dialysis
Oduware, Emmanuel E; Iduoriyekemwen, Nosakhare Joyce NJ; Ibadin, Michael M; Aikhionbare, Henry H
Publication Date: 2021

Variant appearance in text: COL4A5: 3883C>T; Gln1295*
PubMed Link: 34901198
Variant Present in the following documents:
  • Main text
  • cnd-0011-0308.pdf
View BVdb publication page