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