COL4A5 c.2164_2166delinsAGC ;(p.G722S)

Variant ID: X-107846211-GGA-AGC

NM_033380.2(COL4A5):c.2164_2166delinsAGC;(p.G722S)

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:

Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.

Molecular Genetics & Genomic Medicine
Zhang, Yanqin Y; Ding, Jie J; Zhang, Hongwen H; Yao, Yong Y; Xiao, Huijie H; Wang, Suxia S; Wang, Fang F
Publication Date: 2019-05

Variant appearance in text: COL4A5: Gly722Ser
PubMed Link: 30883042
Variant Present in the following documents:
  • Main text
  • MGG3-7-e647.pdf
View BVdb publication page