COL4A5 c.2482G>C ;(p.G828R)

Variant ID: X-107858227-G-C

NM_033380.2(COL4A5):c.2482G>C;(p.G828R)

This variant was identified in 3 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: 2482G>C; Gly828Arg
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: COL4A5: G828R
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Massella, Laura L; Gangemi, Concetta C; Giannakakis, Kostas K; Crisafi, Antonella A; Faraggiana, Tullio T; Fallerini, Chiara C; Renieri, Alessandra A; Muda, Andrea Onetti AO; Emma, Francesco F
Publication Date: 2013-05

Variant appearance in text: COL4A5: Gly828Arg
PubMed Link: 23371956
Variant Present in the following documents:
  • Main text
View BVdb publication page