COL4A5 c.3791G>A ;(p.G1264D)

Variant ID: X-107913458-G-A

NM_033380.2(COL4A5):c.3791G>A;(p.G1264D)

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:

The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome.

Frontiers In Pediatrics
Wang, Fang F; Zhao, Dan D; Ding, Jie J; Li, Xuejuan X
Publication Date: 2020

Variant appearance in text: COL4A5: 3791G>A; Gly1264Asp
PubMed Link: 32328471
Variant Present in the following documents:
  • Main text
  • fped-08-00153.pdf
View BVdb publication page