USH2A c.14815del ;(p.S4939Rfs*11)

Variant ID: 1-215814052-GA-G

NM_206933.2(USH2A):c.14815del;(p.S4939Rfs*11)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 14815del; Ser4939Argfs*11
PubMed Link: 33576794
Variant Present in the following documents:
  • Main text
  • iovs-62-2-13.pdf
  • iovs-62-2-13_s001.xlsx, sheet 8
  • iovs-62-2-13_s001.xlsx, sheet 5
View BVdb publication page