USH2A c.13538del ;(p.N4513Tfs*7)

Variant ID: 1-215847714-GT-G

NM_206933.2(USH2A):c.13538del;(p.N4513Tfs*7)

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: 13538delA
PubMed Link: 34599366
Variant Present in the following documents:
  • 439_2021_2371_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page