USH2A c.9471A>G ;(p.Q3157=)

Variant ID: 1-215990438-T-C

NM_206933.2(USH2A):c.9471A>G;(p.Q3157=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology
Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD
Publication Date: 2022-03-26

Variant appearance in text: rs1308153068
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page