COL4A5 c.1120G>T ;(p.G374*)

Variant ID: X-107829932-G-T

NM_033380.2(COL4A5):c.1120G>T;(p.G374*)

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:

An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.

Bmc Nephrology
Zhang, Li L; Sun, Bai-Chao BC; Zhao, Bing-Gang BG; Ma, Qing-Shan QS
Publication Date: 2020-07-23

Variant appearance in text: COL4A5: Gly374X
PubMed Link: 32703181
Variant Present in the following documents:
  • Main text
  • 12882_2020_Article_1962.pdf
View BVdb publication page