COL4A5 c.1912G>A ;(p.G638S)

Variant ID: X-107842064-G-A

NM_033380.2(COL4A5):c.1912G>A;(p.G638S)

This variant was identified in 5 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: 1912G>A; Gly638Ser
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: 1912G>A; Gly638Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome.

Kidney International Reports
Bu, Lihong L; Chen, Judy J; Nelson, Andrew C AC; Katz, Avi A; Kashtan, Clifford E CE; Kim, Youngki Y; Pierpont, Mary Ella ME
Publication Date: 2019-07

Variant appearance in text: COL4A5: 1912G>A; Gly638Ser
PubMed Link: 31312776
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: COL4A5: G638S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.

European Journal Of Human Genetics : Ejhg
Fu, Xue Jun XJ; Nozu, Kandai K; Kaito, Hiroshi H; Ninchoji, Takeshi T; Morisada, Naoya N; Nakanishi, Koichi K; Yoshikawa, Norishige N; Ohtsubo, Hiromi H; Matsunoshita, Natsuki N; Kamiyoshi, Naohiro N; Matsumura, Chieko C; Takagi, Nobuaki N; Maekawa, Kohei K; Taniguchi-Ikeda, Mariko M; Iijima, Kazumoto K
Publication Date: 2016-03

Variant appearance in text: COL4A5: 1912G>A; Gly638Ser
PubMed Link: 26014433
Variant Present in the following documents:
  • Main text
View BVdb publication page