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COL4A5 c.5049A>C ;(p.R1683=)
Variant ID: X-107939581-A-C
NM_033380.2(
COL4A5
):c.5049A>C;(p.R1683=)
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: R1683R
PubMed Link:
35243249
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page