USH2A c.11918del ;(p.A3973Vfs*11)

Variant ID: 1-215901520-AG-A

NM_206933.2(USH2A):c.11918del;(p.A3973Vfs*11)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Scientific Reports
Jauregui, Ruben R; Chan, Lawrence L; Oh, Jin Kyun JK; Cho, Ahra A; Sparrow, Janet R JR; Tsang, Stephen H SH
Publication Date: 2020-02-25

Variant appearance in text: USH2A: 11918delC
PubMed Link: 32098976
Variant Present in the following documents:
  • 41598_2020_60137_MOESM1_ESM.pdf
View BVdb publication page



Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

Scientific Reports
Sengillo, Jesse D JD; Cabral, Thiago T; Schuerch, Kaspar K; Duong, Jimmy J; Lee, Winston W; Boudreault, Katherine K; Xu, Yu Y; Justus, Sally S; Sparrow, Janet R JR; Mahajan, Vinit B VB; Tsang, Stephen H SH
Publication Date: 2017-09-11

Variant appearance in text: USH2A: 11918delC
PubMed Link: 28894305
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_11679.pdf
  • 41598_2017_11679_MOESM1_ESM.pdf
View BVdb publication page



MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.

Molecular Vision
Sodi, Andrea A; Mariottini, Alessandro A; Passerini, Ilaria I; Murro, Vittoria V; Tachyla, Iryna I; Bianchi, Benedetta B; Menchini, Ugo U; Torricelli, Francesca F
Publication Date: 2014

Variant appearance in text: USH2A: 11918del
PubMed Link: 25558175
Variant Present in the following documents:
  • Main text
  • mv-v20-1717.pdf
View BVdb publication page