Bibliome.ai browser hg19
Search
About
Stats
FAQ
USH2A c.9846T>A ;(p.C3282*)
Variant ID: 1-215972361-A-T
NM_206933.2(
USH2A
):c.9846T>A;(p.C3282*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Human Genetics
Usami, Shin-Ichi SI; Nishio, Shin-Ya SY
Publication Date: 2022-04
Variant appearance in text: USH2A: 9846T>A; Cys3282Ter
PubMed Link:
34599366
Variant Present in the following documents:
439_2021_2371_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page