COL4A5 c.944del ;(p.P315Lfs*31)

Variant ID: X-107826119-GC-G

NM_033380.2(COL4A5):c.944del;(p.P315Lfs*31)

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:

Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Kidney International Reports
Gillion, Valentine V; Dahan, Karin K; Cosyns, Jean-Pierre JP; Hilbert, Pascale P; Jadoul, Michel M; Goffin, Eric E; Godefroid, Nathalie N; De Meyer, Martine M; Mourad, Michel M; Pirson, Yves Y; Kanaan, Nada N
Publication Date: 2018-05

Variant appearance in text: COL4A5: 944del; Pro315Leufs*31
PubMed Link: 29854973
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page