COL4A5 c.1634G>A ;(p.G545D)

Variant ID: X-107840653-G-A

NM_033380.2(COL4A5):c.1634G>A;(p.G545D)

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: 1634G>A; Gly545Asp
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Schapiro, David D; Daga, Ankana A; Lawson, Jennifer A JA; Majmundar, Amar J AJ; Lovric, Svjetlana S; Tan, Weizhen W; Warejko, Jillian K JK; Fessi, Inés I; Rao, Jia J; Airik, Merlin M; Gee, Heon Yung HY; Schneider, Ronen R; Widmeier, Eugen E; Hermle, Tobias T; Ashraf, Shazia S; Jobst-Schwan, Tilman T; van der Ven, Amelie T AT; Nakayama, Makiko M; Shril, Shirlee S; Braun, Daniela A DA; Hildebrandt, Friedhelm F
Publication Date: 2019-03-01

Variant appearance in text: COL4A5: 1634G>A; Gly545Asp
PubMed Link: 30295827
Variant Present in the following documents:
  • Main text
View BVdb publication page