COL4A5 c.3293G>A ;(p.G1098D)

Variant ID: X-107898607-G-A

NM_033380.2(COL4A5):c.3293G>A;(p.G1098D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: COL4A5: 3293G>A; Gly1098Asp
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Kidney International Reports
Gillion, Valentine V; Dahan, Karin K; Cosyns, Jean-Pierre JP; Hilbert, Pascale P; Jadoul, Michel M; Goffin, Eric E; Godefroid, Nathalie N; De Meyer, Martine M; Mourad, Michel M; Pirson, Yves Y; Kanaan, Nada N
Publication Date: 2018-05

Variant appearance in text: COL4A5: 3293G>A; Gly1098Asp
PubMed Link: 29854973
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page