USH2A c.10388_10394del ;(p.D3463Afs*6)

Variant ID: 1-215956271-GTTCACAT-G

NM_206933.2(USH2A):c.10388_10394del;(p.D3463Afs*6)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.

Bmc Medical Genetics
Pater, Justin A JA; Green, Jane J; O'Rielly, Darren D DD; Griffin, Anne A; Squires, Jessica J; Burt, Taylor T; Fernandez, Sara S; Fernandez, Bridget B; Houston, Jim J; Zhou, Jiayi J; Roslin, Nicole M NM; Young, Terry-Lynn TL
Publication Date: 2019-05-02

Variant appearance in text: USH2A: Asp3463Alafs*6
PubMed Link: 31046701
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_777.pdf
View BVdb publication page