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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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