USH2A c.8486T>C ;(p.V2829A)

Variant ID: 1-216052178-A-G

NM_206933.2(USH2A):c.8486T>C;(p.V2829A)

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: USH2A: 8486T>C; Val2829Ala
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology
Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD
Publication Date: 2022-03-26

Variant appearance in text: rs759063087
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg
Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I
Publication Date: 2022-01

Variant appearance in text: USH2A: 8486T>C; Val2829Ala; rs759063087
PubMed Link: 34837038
Variant Present in the following documents:
  • 41431_2021_984_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg
Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I
Publication Date: 2021-11-26

Variant appearance in text: USH2A: 8486T>C; Val2829Ala; rs759063087
PubMed Link: 34837038
Variant Present in the following documents:
  • 41431_2021_984_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: USH2A: 8486T>C; V2829A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page