COL4A5 c.5047_5049delinsTGG ;(p.R1683W)

Variant ID: X-107939579-CGA-TGG

NM_033380.2(COL4A5):c.5047_5049delinsTGG;(p.R1683W)

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:

NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.

Iscience
Omachi, Kohei K; Kai, Hirofumi H; Roberge, Michel M; Miner, Jeffrey H JH
Publication Date: 2022-03-18

Variant appearance in text: COL4A5: R1683W
PubMed Link: 35243249
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page