USH2A c.13040_13062del ;(p.T4347Sfs*34)

Variant ID: 1-215848191-CAGCCTCCAGAGTTGTGATGCTGG-C

NM_206933.2(USH2A):c.13040_13062del;(p.T4347Sfs*34)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.

Jama Network Open
Liao, Elizabeth N EN; Taketa, Emily E; Mohamad, Noura I NI; Chan, Dylan K DK
Publication Date: 2022-09-01

Variant appearance in text: USH2A: 13040_13062del
PubMed Link: 36166228
Variant Present in the following documents:
  • jamanetwopen-e2233441-s001.pdf
View BVdb publication page



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: 13040_13062del
PubMed Link: 34515852
Variant Present in the following documents:
  • 439_2021_2338_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page