USH2A c.12093C>A ;(p.Y4031*)

Variant ID: 1-215853692-G-T

NM_206933.2(USH2A):c.12093C>A;(p.Y4031*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Scientific Reports
Ezquerra-Inchausti, Maitane M; Anasagasti, Ander A; Barandika, Olatz O; Garay-Aramburu, Gonzaga G; Galdós, Marta M; López de Munain, Adolfo A; Irigoyen, Cristina C; Ruiz-Ederra, Javier J
Publication Date: 2018-10-18

Variant appearance in text: USH2A: Tyr4031Ter
PubMed Link: 30337596
Variant Present in the following documents:
  • 41598_2018_33810_MOESM1_ESM.pdf
View BVdb publication page



A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

European Journal Of Human Genetics : Ejhg
Lenassi, Eva E; Vincent, Ajoy A; Li, Zheng Z; Saihan, Zubin Z; Coffey, Alison J AJ; Steele-Stallard, Heather B HB; Moore, Anthony T AT; Steel, Karen P KP; Luxon, Linda M LM; Héon, Elise E; Bitner-Glindzicz, Maria M; Webster, Andrew R AR
Publication Date: 2015-10

Variant appearance in text: USH2A: 12093C>A
PubMed Link: 25649381
Variant Present in the following documents:
  • Main text
  • ejhg2014283a.pdf
View BVdb publication page