COL4A5 c.1844G>C ;(p.G615A)

Variant ID: X-107841996-G-C

NM_033380.2(COL4A5):c.1844G>C;(p.G615A)

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:

A novel missense mutation of COL4A5 gene alter collagen IV α5 chain to cause X-linked Alport syndrome in a Chinese family.

Translational Pediatrics
Kuang, Xinyu X; Sun, Lei L; Wu, Ying Y; Huang, Wenyan W
Publication Date: 2020-10

Variant appearance in text: COL4A5: 1844G>C
PubMed Link: 33209720
Variant Present in the following documents:
  • Main text
  • tp-09-05-587.pdf
View BVdb publication page