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COL4A5 c.2155G>A ;(p.G719R)
Variant ID: X-107846202-G-A
NM_033380.2(
COL4A5
):c.2155G>A;(p.G719R)
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:
A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.
Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17
Variant appearance in text: COL4A5: 2155G>A; Gly719Arg
PubMed Link:
35584624
Variant Present in the following documents:
mmc2.xlsx, sheet 4
View BVdb publication page
Molecular testing for adult type Alport syndrome.
Bmc Nephrology
Pont-Kingdon, Genevieve G; Sumner, Kelli K; Gedge, Friederike F; Miller, Chris C; Denison, Joyce J; Gregory, Martin M; Lyon, Elaine E
Publication Date: 2009-11-17
Variant appearance in text: COL4A5: gly719arg
PubMed Link:
19919694
Variant Present in the following documents:
Main text
1471-2369-10-38.pdf
View BVdb publication page