USH2A c.14587G>T ;(p.E4863*)

Variant ID: 1-215821068-C-A

NM_206933.2(USH2A):c.14587G>T;(p.E4863*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 14587G>T; Glu4863*
PubMed Link: 28749477
Variant Present in the following documents:
  • Main text
  • gim201797a.pdf
View BVdb publication page