USH2A c.6793_6798del ;(p.E2265_Y2266del)

Variant ID: 1-216166368-GATATTC-G

NM_206933.2(USH2A):c.6793_6798del;(p.E2265_Y2266del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Journal Of Medical Genetics
Le Quesne Stabej, Polona P; Saihan, Zubin Z; Rangesh, Nell N; Steele-Stallard, Heather B HB; Ambrose, John J; Coffey, Alison A; Emmerson, Jenny J; Haralambous, Elene E; Hughes, Yasmin Y; Steel, Karen P KP; Luxon, Linda M LM; Webster, Andrew R AR; Bitner-Glindzicz, Maria M
Publication Date: 2012-01

Variant appearance in text: USH2A: Glu2265_Tyr2266del
PubMed Link: 22135276
Variant Present in the following documents:
  • Main text
  • jmedgenet-2011-100468.pdf
View BVdb publication page