USH2A c.12701C>T ;(p.T4234M)

Variant ID: 1-215848552-G-A

NM_206933.2(USH2A):c.12701C>T;(p.T4234M)

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: USH2A: 12701C>T; Thr4234Met
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: rs564240175
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs564240175
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs564240175
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers.

Nature Medicine
Parikh, Aparna R AR; Leshchiner, Ignaty I; Elagina, Liudmila L; Goyal, Lipika L; Levovitz, Chaya C; Siravegna, Giulia G; Livitz, Dimitri D; Rhrissorrakrai, Kahn K; Martin, Elizabeth E EE; Van Seventer, Emily E EE; Hanna, Megan M; Slowik, Kara K; Utro, Filippo F; Pinto, Christopher J CJ; Wong, Alicia A; Danysh, Brian P BP; de la Cruz, Ferran Fece FF; Fetter, Isobel J IJ; Nadres, Brandon B; Shahzade, Heather A HA; Allen, Jill N JN; Blaszkowsky, Lawrence S LS; Clark, Jeffrey W JW; Giantonio, Bruce B; Murphy, Janet E JE; Nipp, Ryan D RD; Roeland, Eric E; Ryan, David P DP; Weekes, Colin D CD; Kwak, Eunice L EL; Faris, Jason E JE; Wo, Jennifer Y JY; Aguet, François F; Dey-Guha, Ipsita I; Hazar-Rethinam, Mehlika M; Dias-Santagata, Dora D; Ting, David T DT; Zhu, Andrew X AX; Hong, Theodore S TS; Golub, Todd R TR; Iafrate, A John AJ; Adalsteinsson, Viktor A VA; Bardelli, Alberto A; Parida, Laxmi L; Juric, Dejan D; Getz, Gad G; Corcoran, Ryan B RB
Publication Date: 2019-09

Variant appearance in text: USH2A: T4234M
PubMed Link: 31501609
Variant Present in the following documents:
  • NIHMS1535793-supplement-1.xlsx, sheet 5
View BVdb publication page



Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Blood Cancer Journal
Richter-Pechańska, P P; Kunz, J B JB; Hof, J J; Zimmermann, M M; Rausch, T T; Bandapalli, O R OR; Orlova, E E; Scapinello, G G; Sagi, J C JC; Stanulla, M M; Schrappe, M M; Cario, G G; Kirschner-Schwabe, R R; Eckert, C C; Benes, V V; Korbel, J O JO; Muckenthaler, M U MU; Kulozik, A E AE
Publication Date: 2017-02-03

Variant appearance in text: USH2A: T4234M
PubMed Link: 28157215
Variant Present in the following documents:
  • bcj20173x11.xlsx, sheet 1
View BVdb publication page