COL4A5 c.4345C>T ;(p.P1449S)

Variant ID: X-107930741-C-T

NM_033380.2(COL4A5):c.4345C>T;(p.P1449S)

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:

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg
Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I
Publication Date: 2022-01

Variant appearance in text: COL4A5: 4345C>T; Pro1449Ser
PubMed Link: 34837038
Variant Present in the following documents:
  • 41431_2021_984_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page


Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg
Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I
Publication Date: 2021-11-26

Variant appearance in text: COL4A5: 4345C>T; Pro1449Ser
PubMed Link: 34837038
Variant Present in the following documents:
  • 41431_2021_984_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page