COL4A5 c.685A>T ;(p.K229*)

Variant ID: X-107821347-A-T

NM_033380.2(COL4A5):c.685A>T;(p.K229*)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic testing can resolve diagnostic confusion in Alport syndrome.

Clinical Kidney Journal
Adam, Jennifer J; Connor, Thomas M F TM; Wood, Katrina K; Lewis, David D; Naik, Ramesh R; Gale, Daniel P DP; Sayer, John A JA
Publication Date: 2014-04

Variant appearance in text: COL4A5: 685A>T; Lys229X
PubMed Link: 24944784
Variant Present in the following documents:
  • Main text
  • sft144.pdf
View BVdb publication page