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USH2A c.11676A>G ;(p.K3892=)
Variant ID: 1-215914752-T-C
NM_206933.2(
USH2A
):c.11676A>G;(p.K3892=)
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:
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: rs751029279
PubMed Link:
35346118
Variant Present in the following documents:
12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page