USH2A c.11389+3A>T

Variant ID: 1-215931934-T-A

NM_206933.2(USH2A):c.11389+3A>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: USH2A: 11389+3A>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology
Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S
Publication Date: 2023

Variant appearance in text: USH2A: 11389+3A>T
PubMed Link: 36819107
Variant Present in the following documents:
  • Table4.xlsx, sheet 1
View BVdb publication page



Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Bmc Ophthalmology
Xing, Dongjun D; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Yang, Yang Y; Li, Chang C; Li, Zhiqing Z; Li, Xiaorong X
Publication Date: 2022-07-23

Variant appearance in text: USH2A: 11389+3A>T; rs753886165
PubMed Link: 35870892
Variant Present in the following documents:
  • 12886_2022_2532_MOESM5_ESM.xlsx, sheet 1
  • 12886_2022_2532_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Genes
Moon, Dabin D; Park, Hye Won HW; Surl, Dongheon D; Won, Dongju D; Lee, Seung-Tae ST; Shin, Saeam S; Choi, Jong Rak JR; Han, Jinu J
Publication Date: 2021-12-23

Variant appearance in text: USH2A: 11389+3A>T
PubMed Link: 35052368
Variant Present in the following documents:
  • Main text
  • genes-13-00027.pdf
View BVdb publication page



Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Genes
Moon, Dabin D; Park, Hye Won HW; Surl, Dongheon D; Won, Dongju D; Lee, Seung-Tae ST; Shin, Saeam S; Choi, Jong Rak JR; Han, Jinu J
Publication Date: 2021-12-23

Variant appearance in text: USH2A: 11389+3A>T
PubMed Link: 35052368
Variant Present in the following documents:
  • Main text
  • genes-13-00027.pdf
View BVdb publication page



The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Human Genetics
Usami, Shin-Ichi SI; Nishio, Shin-Ya SY
Publication Date: 2022-04

Variant appearance in text: USH2A: 11389+3A>T; rs753886165
PubMed Link: 34599366
Variant Present in the following documents:
  • 439_2021_2371_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Human Genetics
Bahena, Paulina P; Daftarian, Narsis N; Maroofian, Reza R; Linares, Paola P; Villalobos, Daniel D; Mirrahimi, Mehraban M; Rad, Aboulfazl A; Doll, Julia J; Hofrichter, Michaela A H MAH; Koparir, Asuman A; Röder, Tabea T; Han, Seungbin S; Sabbaghi, Hamideh H; Ahmadieh, Hamid H; Behboudi, Hassan H; Villanueva-Mendoza, Cristina C; Cortés-Gonzalez, Vianney V; Zamora-Ortiz, Rocio R; Kohl, Susanne S; Kuehlewein, Laura L; Darvish, Hossein H; Alehabib, Elham E; Arenas-Sordo, Maria de la Luz ML; Suri, Fatemeh F; Vona, Barbara B; Haaf, Thomas T
Publication Date: 2022-04

Variant appearance in text: USH2A: 11389+3A>T
PubMed Link: 34148116
Variant Present in the following documents:
  • 439_2021_2303_MOESM1_ESM.pdf
View BVdb publication page



Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Npj Genomic Medicine
Chen, Ta-Ching TC; Huang, Ding-Siang DS; Lin, Chao-Wen CW; Yang, Chang-Hao CH; Yang, Chung-May CM; Wang, Victoria Y VY; Lin, Jou-Wei JW; Luo, Allen Chilun AC; Hu, Fung-Rong FR; Chen, Pei-Lung PL
Publication Date: 2021-02-19

Variant appearance in text: USH2A: 11389+3A>T
PubMed Link: 33608557
Variant Present in the following documents:
  • 41525_2021_180_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.

Bmc Ophthalmology
He, Chenhao C; Liu, Xinyu X; Zhong, Zilin Z; Chen, Jianjun J
Publication Date: 2020-02-24

Variant appearance in text: rs753886165
PubMed Link: 32093671
Variant Present in the following documents:
  • Main text
  • 12886_2020_Article_1342.pdf
View BVdb publication page



Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Human Mutation
Soens, Zachry T ZT; Branch, Justin J; Wu, Shijing S; Yuan, Zhisheng Z; Li, Yumei Y; Li, Hui H; Wang, Keqing K; Xu, Mingchu M; Rajan, Lavan L; Motta, Fabiana L FL; Simões, Renata T RT; Lopez-Solache, Irma I; Ajlan, Radwan R; Birch, David G DG; Zhao, Peiquan P; Porto, Fernanda B FB; Sallum, Juliana J; Koenekoop, Robert K RK; Sui, Ruifang R; Chen, Rui R
Publication Date: 2017-11

Variant appearance in text: USH2A: 11389+3A>T
PubMed Link: 28714225
Variant Present in the following documents:
  • Main text
View BVdb publication page