COL4A5 c.2767G>C ;(p.G923R)

Variant ID: X-107865122-G-C

NM_033380.2(COL4A5):c.2767G>C;(p.G923R)

This variant was identified in 4 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: 2767G>C; Gly923Arg
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: COL4A5: 2767G>C; Gly923Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.

Kidney International Reports
Aoto, Yuya Y; Horinouchi, Tomoko T; Yamamura, Tomohiko T; Kondo, Atsushi A; Nagai, Sadayuki S; Ishiko, Shinya S; Okada, Eri E; Rossanti, Rini R; Sakakibara, Nana N; Nagano, China C; Awano, Hiroyuki H; Nagase, Hiroaki H; Shima, Yuko Y; Nakanishi, Koichi K; Matsuo, Masafumi M; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2022-01

Variant appearance in text: COL4A5: 2767G>C; Gly923Arg
PubMed Link: 35005319
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.

Internal Medicine (Tokyo, Japan)
Abe, Yoshifusa Y; Iyoda, Masayuki M; Nozu, Kandai K; Hibino, Satoshi S; Hihara, Kei K; Yamaguchi, Yutaka Y; Yamamura, Tomohiko T; Minamikawa, Shogo S; Iijima, Kazumoto K; Shibata, Takanori T; Itabashi, Kazuo K
Publication Date: 2016

Variant appearance in text: COL4A5: 2767G>C
PubMed Link: 27725546
Variant Present in the following documents:
  • Main text
  • 1349-7235-55-2843.pdf
View BVdb publication page