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COL4A5 c.1565C>A ;(p.A522E)
Variant ID: X-107840276-C-A
NM_033380.2(
COL4A5
):c.1565C>A;(p.A522E)
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:
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Scientific Reports
Buonfiglio, Paula I PI; Bruque, Carlos D CD; Lotersztein, Vanesa V; Luce, Leonela L; Giliberto, Florencia F; Menazzi, Sebastián S; Francipane, Liliana L; Paoli, Bibiana B; Goldschmidt, Ernesto E; Elgoyhen, Ana Belén AB; Dalamón, Viviana V
Publication Date: 2022-01-07
Variant appearance in text: COL4A5: 1565C>A
PubMed Link:
34997062
Variant Present in the following documents:
41598_2021_Article_4081.pdf
View BVdb publication page
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Scientific Reports
Buonfiglio, Paula I PI; Bruque, Carlos D CD; Lotersztein, Vanesa V; Luce, Leonela L; Giliberto, Florencia F; Menazzi, Sebastián S; Francipane, Liliana L; Paoli, Bibiana B; Goldschmidt, Ernesto E; Elgoyhen, Ana Belén AB; Dalamón, Viviana V
Publication Date: 2022-01-07
Variant appearance in text: COL4A5: 1565C>A
PubMed Link:
34997062
Variant Present in the following documents:
41598_2021_Article_4081.pdf
View BVdb publication page