USH2A c.14333C>A ;(p.A4778D)

Variant ID: 1-215823944-G-T

NM_206933.2(USH2A):c.14333C>A;(p.A4778D)

This variant was identified in 7 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: 14333C>A; Ala4778Asp
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Hgg Advances
Reurink, Janine J; Weisschuh, Nicole N; Garanto, Alejandro A; Dockery, Adrian A; van den Born, L Ingeborgh LI; Fajardy, Isabelle I; Haer-Wigman, Lonneke L; Kohl, Susanne S; Wissinger, Bernd B; Farrar, G Jane GJ; Ben-Yosef, Tamar T; Pfiffner, Fatma Kivrak FK; Berger, Wolfgang W; Weener, Marianna E ME; Dudakova, Lubica L; Liskova, Petra P; Sharon, Dror D; Salameh, Manar M; Offenheim, Ashley A; Heon, Elise E; Girotto, Giorgia G; Gasparini, Paolo P; Morgan, Anna A; Bergen, Arthur A AA; Ten Brink, Jacoline B JB; Klaver, Caroline C W CCW; Tranebjærg, Lisbeth L; Rendtorff, Nanna D ND; Vermeer, Sascha S; Smits, Jeroen J JJ; Pennings, Ronald J E RJE; Aben, Marco M; Oostrik, Jaap J; Astuti, Galuh D N GDN; Corominas Galbany, Jordi J; Kroes, Hester Y HY; Phan, Milan M; van Zelst-Stams, Wendy A G WAG; Thiadens, Alberta A H J AAHJ; Verheij, Joke B G M JBGM; van Schooneveld, Mary J MJ; de Bruijn, Suzanne E SE; Li, Catherina H Z CHZ; Hoyng, Carel B CB; Gilissen, Christian C; Vissers, Lisenka E L M LELM; Cremers, Frans P M FPM; Kremer, Hannie H; van Wijk, Erwin E; Roosing, Susanne S
Publication Date: 2023-04-13

Variant appearance in text: USH2A: 14333C>A
PubMed Link: 36785559
Variant Present in the following documents:
  • Main text
  • mmc4.pdf
  • main.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: USH2A: A4778D; rs113447586
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.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: A4778D; rs113447586
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.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: rs113447586
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: USH2A: 14333C>A; Ala4778Asp
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics
McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL
Publication Date: 2010-07

Variant appearance in text: USH2: 14333C>A
PubMed Link: 20507924
Variant Present in the following documents:
  • Main text
View BVdb publication page