USH2A c.8053G>A ;(p.D2685N)

Variant ID: 1-216061938-C-T

NM_206933.2(USH2A):c.8053G>A;(p.D2685N)

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:

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Human Genetics
Florentine, Michelle M MM; Rouse, Stephanie L SL; Stephans, Jihyun J; Conrad, David D; Czechowicz, Josephine J; Matthews, Ian R IR; Meyer, Anna K AK; Nadaraja, Garani S GS; Parikh, Rajan R; Virbalas, Jordan J; Weinstein, Jacqueline E JE; Chan, Dylan K DK
Publication Date: 2022-04

Variant appearance in text: USH2A: 8053G>A; D2685N
PubMed Link: 34515852
Variant Present in the following documents:
  • 439_2021_2338_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page