USH2A c.14426C>T ;(p.T4809I)

Variant ID: 1-215822026-G-A

NM_206933.2(USH2A):c.14426C>T;(p.T4809I)

This variant was identified in 10 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: 14426C>T; Thr4809Ile
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: USH2A: 14426C>T; T4809I; rs770553471
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
  • 12886_2022_2353_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular Genetics & Genomic Medicine
Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M
Publication Date: 2021-12

Variant appearance in text: USH2A: 14426C>T; Thr4809Ile
PubMed Link: 33749171
Variant Present in the following documents:
  • MGG3-9-e1663-s001.xlsx, sheet 1
View BVdb publication page



Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular Genetics & Genomic Medicine
Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M
Publication Date: 2021-03-22

Variant appearance in text: USH2A: 14426C>T; Thr4809Ile
PubMed Link: 33749171
Variant Present in the following documents:
  • MGG3-9-e1663-s001.xlsx, sheet 1
View BVdb publication page



A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01

Variant appearance in text: USH2A: T4809I
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page



Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.

Molecular Genetics & Genomic Medicine
Dan, Handong H; Huang, Xin X; Xing, Yiqiao Y; Shen, Yin Y
Publication Date: 2020-03

Variant appearance in text: USH2A: 14426C>T; Thr4809Ile
PubMed Link: 31960602
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1131.pdf
View BVdb publication page



A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

European Journal Of Human Genetics : Ejhg
Lenassi, Eva E; Vincent, Ajoy A; Li, Zheng Z; Saihan, Zubin Z; Coffey, Alison J AJ; Steele-Stallard, Heather B HB; Moore, Anthony T AT; Steel, Karen P KP; Luxon, Linda M LM; Héon, Elise E; Bitner-Glindzicz, Maria M; Webster, Andrew R AR
Publication Date: 2015-10

Variant appearance in text: USH2A: 14426C>T; Thr4809Ile
PubMed Link: 25649381
Variant Present in the following documents:
  • Main text
  • ejhg2014283a.pdf
View BVdb publication page



Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

Orphanet Journal Of Rare Diseases
Steele-Stallard, Heather B HB; Le Quesne Stabej, Polona P; Lenassi, Eva E; Luxon, Linda M LM; Claustres, Mireille M; Roux, Anne-Francoise AF; Webster, Andrew R AR; Bitner-Glindzicz, Maria M
Publication Date: 2013-08-08

Variant appearance in text: USH2A: Thr4809Ile
PubMed Link: 23924366
Variant Present in the following documents:
  • 1750-1172-8-122-S1.xlsx, sheet 1
View BVdb publication page



Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Journal Of Medical Genetics
Le Quesne Stabej, Polona P; Saihan, Zubin Z; Rangesh, Nell N; Steele-Stallard, Heather B HB; Ambrose, John J; Coffey, Alison A; Emmerson, Jenny J; Haralambous, Elene E; Hughes, Yasmin Y; Steel, Karen P KP; Luxon, Linda M LM; Webster, Andrew R AR; Bitner-Glindzicz, Maria M
Publication Date: 2012-01

Variant appearance in text: USH2A: Thr4809Ile
PubMed Link: 22135276
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Orphanet Journal Of Rare Diseases
Bonnet, Crystel C; Grati, M'hamed M; Marlin, Sandrine S; Levilliers, Jacqueline J; Hardelin, Jean-Pierre JP; Parodi, Marine M; Niasme-Grare, Magali M; Zelenika, Diana D; Délépine, Marc M; Feldmann, Delphine D; Jonard, Laurence L; El-Amraoui, Aziz A; Weil, Dominique D; Delobel, Bruno B; Vincent, Christophe C; Dollfus, Hélène H; Eliot, Marie-Madeleine MM; David, Albert A; Calais, Catherine C; Vigneron, Jacqueline J; Montaut-Verient, Bettina B; Bonneau, Dominique D; Dubin, Jacques J; Thauvin, Christel C; Duvillard, Alain A; Francannet, Christine C; Mom, Thierry T; Lacombe, Didier D; Duriez, Françoise F; Drouin-Garraud, Valérie V; Thuillier-Obstoy, Marie-Françoise MF; Sigaudy, Sabine S; Frances, Anne-Marie AM; Collignon, Patrick P; Challe, Georges G; Couderc, Rémy R; Lathrop, Mark M; Sahel, José-Alain JA; Weissenbach, Jean J; Petit, Christine C; Denoyelle, Françoise F
Publication Date: 2011-05-11

Variant appearance in text: USH2: T4809I
PubMed Link: 21569298
Variant Present in the following documents:
  • Main text
  • 1750-1172-6-21.pdf
View BVdb publication page



An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

European Journal Of Human Genetics : Ejhg
Ebermann, Inga I; Koenekoop, Robert K RK; Lopez, Irma I; Bou-Khzam, Lara L; Pigeon, Renée R; Bolz, Hanno J HJ
Publication Date: 2009-01

Variant appearance in text: USH2: 14426C>T
PubMed Link: 18665195
Variant Present in the following documents:
  • Main text
View BVdb publication page