USH2A c.14977_14978del ;(p.F4993Pfs*7)

Variant ID: 1-215812570-GAA-G

NM_206933.2(USH2A):c.14977_14978del;(p.F4993Pfs*7)

This variant was identified in 8 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: 14977_14978del; Phe4993fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 14977_14978del; Phe4993Profs*7
PubMed Link: 36460718
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_24636.pdf
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Investigative Ophthalmology & Visual Science
Colombo, Leonardo L; Maltese, Paolo E PE; Castori, Marco M; El Shamieh, Said S; Zeitz, Christina C; Audo, Isabelle I; Zulian, Alessandra A; Marinelli, Carla C; Benedetti, Sabrina S; Costantini, Alisia A; Bressan, Simone S; Percio, Marcella M; Ferri, Paolo P; Abeshi, Andi A; Bertelli, Matteo M; Rossetti, Luca L
Publication Date: 2021-02-01

Variant appearance in text: USH2A: 14977_14978del; Phe4993Profs*7
PubMed Link: 33576794
Variant Present in the following documents:
  • iovs-62-2-13_s001.xlsx, sheet 5
  • iovs-62-2-13_s001.xlsx, sheet 8
View BVdb publication page



Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.

International Journal Of Molecular Sciences
Karali, Marianthi M; Testa, Francesco F; Brunetti-Pierri, Raffaella R; Di Iorio, Valentina V; Pizzo, Mariateresa M; Melillo, Paolo P; Barillari, Maria Rosaria MR; Torella, Annalaura A; Musacchia, Francesco F; D'Angelo, Luigi L; Banfi, Sandro S; Simonelli, Francesca F
Publication Date: 2019-12-20

Variant appearance in text: USH2A: 14977_14978del; Phe4993Profs
PubMed Link: 31877679
Variant Present in the following documents:
  • Main text
  • ijms-21-00086.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: 14977_14978delTT; Phe4993fs
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.

Scientific Reports
Eandi, Chiara M CM; Dallorto, Laura L; Spinetta, Roberta R; Micieli, Maria Pia MP; Vanzetti, Mario M; Mariottini, Alessandro A; Passerini, Ilaria I; Torricelli, Francesca F; Alovisi, Camilla C; Marchese, Cristiana C
Publication Date: 2017-11-15

Variant appearance in text: USH2: 14977_14978del
PubMed Link: 29142287
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_16014.pdf
View BVdb publication page



Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

Biomed Research International
Bernardis, Isabella I; Chiesi, Laura L; Tenedini, Elena E; Artuso, Lucia L; Percesepe, Antonio A; Artusi, Valentina V; Simone, Maria Luisa ML; Manfredini, Rossella R; Camparini, Monica M; Rinaldi, Chiara C; Ciardella, Antonio A; Graziano, Claudio C; Balducci, Nicole N; Tranchina, Antonia A; Cavallini, Gian Maria GM; Pietrangelo, Antonello A; Marigo, Valeria V; Tagliafico, Enrico E
Publication Date: 2016

Variant appearance in text: USH2A: Phe4993ProfsX7
PubMed Link: 28127548
Variant Present in the following documents:
  • Main text
  • BMRI2016-6341870.pdf
View BVdb publication page



MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.

Molecular Vision
Sodi, Andrea A; Mariottini, Alessandro A; Passerini, Ilaria I; Murro, Vittoria V; Tachyla, Iryna I; Bianchi, Benedetta B; Menchini, Ugo U; Torricelli, Francesca F
Publication Date: 2014

Variant appearance in text: USH2A: 14977_14978del
PubMed Link: 25558175
Variant Present in the following documents:
  • Main text
  • mv-v20-1717.pdf
View BVdb publication page