USH2A c.8167C>T ;(p.R2723*)

Variant ID: 1-216061824-G-A

NM_206933.2(USH2A):c.8167C>T;(p.R2723*)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Biomedicines
Spedicati, Beatrice B; Santin, Aurora A; Nardone, Giuseppe Giovanni GG; Rubinato, Elisa E; Lenarduzzi, Stefania S; Graziano, Claudio C; Garavelli, Livia L; Miccoli, Sara S; Bigoni, Stefania S; Morgan, Anna A; Girotto, Giorgia G
Publication Date: 2023-02-24

Variant appearance in text: USH2A: 8167C>T
PubMed Link: 36979683
Variant Present in the following documents:
  • Main text
  • biomedicines-11-00703.pdf
View BVdb publication page



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: 8167C>T; Arg2723Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: USH2: 8167C>T
PubMed Link: 36785559
Variant Present in the following documents:
  • Main text
  • mmc2.xlsx, sheet 1
  • mmc4.pdf
  • main.pdf
View BVdb publication page



Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02

Variant appearance in text: USH2A: 8167C>T; Arg2723*
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Variant analysis of 92 Chinese Han families with hearing loss.

Bmc Medical Genomics
Jin, Xiaohua X; Huang, Shasha S; An, Lisha L; Zhang, Chuan C; Dai, Pu P; Gao, Huafang H; Ma, Xu X
Publication Date: 2022-01-21

Variant appearance in text: USH2A: 8167C>T; R2723X
PubMed Link: 35062939
Variant Present in the following documents:
  • Main text
  • 12920_2022_Article_1158.pdf
View BVdb publication page



Variant analysis of 92 Chinese Han families with hearing loss.

Bmc Medical Genomics
Jin, Xiaohua X; Huang, Shasha S; An, Lisha L; Zhang, Chuan C; Dai, Pu P; Gao, Huafang H; Ma, Xu X
Publication Date: 2022-01-21

Variant appearance in text: USH2A: 8167C>T; R2723X
PubMed Link: 35062939
Variant Present in the following documents:
  • Main text
  • 12920_2022_Article_1158.pdf
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: R2723X
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page



The Era of Precision Medicine: Reshaping Usher Syndrome.

Clinical And Experimental Otorhinolaryngology
Jung, Jinsei J
Publication Date: 2020-05

Variant appearance in text: USH2: R2723X
PubMed Link: 32434306
Variant Present in the following documents:
  • Main text
  • ceo-2019-02117.pdf
View BVdb publication page



Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation.

Clinical And Experimental Otorhinolaryngology
Lee, Sang-Yeon SY; Joo, Kwangsic K; Oh, Jayoung J; Han, Jin Hee JH; Park, Hye-Rim HR; Lee, Seungmin S; Oh, Doo-Yi DY; Woo, Se Joon SJ; Choi, Byung Yoon BY
Publication Date: 2020-05

Variant appearance in text: USH2A: R2723X
PubMed Link: 31674169
Variant Present in the following documents:
  • Main text
  • ceo-2019-00990.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: USH2A: 8167C>T; Arg2723*; rs200712760
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Van Schil, Kristof K; Naessens, Sarah S; Van de Sompele, Stijn S; Carron, Marjolein M; Aslanidis, Alexander A; Van Cauwenbergh, Caroline C; Kathrin Mayer, Anja A; Van Heetvelde, Mattias M; Bauwens, Miriam M; Verdin, Hannah H; Coppieters, Frauke F; Greenberg, Michael E ME; Yang, Marty G MG; Karlstetter, Marcus M; Langmann, Thomas T; De Preter, Katleen K; Kohl, Susanne S; Cherry, Timothy J TJ; Leroy, Bart P BP; , ; De Baere, Elfride E
Publication Date: 2018-02

Variant appearance in text: USH2A: 8167C>T; Arg2723*
PubMed Link: 28749477
Variant Present in the following documents:
  • Main text
  • gim201797x2.xlsx, sheet 1
  • gim201797a.pdf
View BVdb publication page



Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.

Oncotarget
Lee, Sung Hak SH; Jung, Seung Hyun SH; Kim, Tae-Min TM; Rhee, Je-Keun JK; Park, Hyeon-Chun HC; Kim, Min Sung MS; Kim, Sung Soo SS; An, Chang Hyeok CH; Lee, Sug Hyung SH; Chung, Yeun-Jun YJ
Publication Date: 2017-01-24

Variant appearance in text: USH2A: R2723X
PubMed Link: 28179590
Variant Present in the following documents:
  • oncotarget-08-6579-s002.xlsx, sheet 1
View BVdb publication page



Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.

Molecular Vision
García-García, Gema G; Aller, Elena E; Jaijo, Teresa T; Aparisi, Maria J MJ; Larrieu, Lise L; Faugère, Valérie V; Blanco-Kelly, Fiona F; Ayuso, Carmen C; Roux, Anne-Francoise AF; Millán, José M JM
Publication Date: 2014

Variant appearance in text: USH2: 8167C>T
PubMed Link: 25352746
Variant Present in the following documents:
  • Main text
  • mv-v20-1398.pdf
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: 8167C>T
PubMed Link: 20507924
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Investigative Ophthalmology & Visual Science
Sandberg, Michael A MA; Rosner, Bernard B; Weigel-DiFranco, Carol C; McGee, Terri L TL; Dryja, Thaddeus P TP; Berson, Eliot L EL
Publication Date: 2008-12

Variant appearance in text: USH2A: 8167C>T; Arg2723X
PubMed Link: 18641288
Variant Present in the following documents:
  • Main text
View BVdb publication page