COL4A5 c.476G>T ;(p.G159V)

Variant ID: X-107816814-G-T

NM_033380.2(COL4A5):c.476G>T;(p.G159V)

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:

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review.

Biomed Research International
Gong, Wen-Yu WY; Liu, Fan-Na FN; Yin, Liang-Hong LH; Zhang, Jun J
Publication Date: 2021

Variant appearance in text: COL4A5: 476G>T; Gly159Val
PubMed Link: 33748275
Variant Present in the following documents:
  • Main text
  • BMRI2021-6664973.pdf
View BVdb publication page