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.




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