COL4A5 c.3070G>A ;(p.G1024R)

Variant ID: X-107868988-G-A

NM_033380.2(COL4A5):c.3070G>A;(p.G1024R)

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:

Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.

Clinical Kidney Journal
Ars, Elisabet E; Torra, Roser R
Publication Date: 2017-10

Variant appearance in text: COL4A5: 3070G>A; Gly1024Arg
PubMed Link: 28980669
Variant Present in the following documents:
  • Main text
  • sfx051.pdf
View BVdb publication page