COL4A5 c.467G>C ;(p.G156A)

Variant ID: X-107816805-G-C

NM_033380.2(COL4A5):c.467G>C;(p.G156A)

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:

X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.

Hippokratia
Pierides, A A; Voskarides, K K; Kkolou, M M; Hadjigavriel, M M; Deltas, C C
Publication Date: 2013-07

Variant appearance in text: COL4A5: G156A
PubMed Link: 24470729
Variant Present in the following documents:
  • Main text
View BVdb publication page