USH2A c.9775G>T ;(p.V3259F)

Variant ID: 1-215972432-C-A

NM_206933.2(USH2A):c.9775G>T;(p.V3259F)

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: 9775G>T; Val3259Phe
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: USH2A: V3259F; rs1377011363
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.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: rs1377011363
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Local mutational diversity drives intratumoral immune heterogeneity in non-small cell lung cancer.

Nature Communications
Jia, Qingzhu Q; Wu, Wei W; Wang, Yuqi Y; Alexander, Peter B PB; Sun, Chengdu C; Gong, Zhihua Z; Cheng, Jia-Nan JN; Sun, Huaibo H; Guan, Yanfang Y; Xia, Xuefeng X; Yang, Ling L; Yi, Xin X; Wan, Yisong Y YY; Wang, Haidong H; He, Ji J; Futreal, P Andrew PA; Li, Qi-Jing QJ; Zhu, Bo B
Publication Date: 2018-12-18

Variant appearance in text: USH2A: 9775G>T; V3259F
PubMed Link: 30560866
Variant Present in the following documents:
  • 41467_2018_7767_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page