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USH2A c.14226G>A ;(p.T4742=)
Variant ID: 1-215824051-C-T
NM_206933.2(
USH2A
):c.14226G>A;(p.T4742=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic variants in African-American and Hispanic patients with breast cancer.
Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02
Variant appearance in text: USH2A: 14226G>A; T4742T
PubMed Link:
36644153
Variant Present in the following documents:
Supplementary_Data5.xlsx, sheet 1
View BVdb publication page
Gene panel sequencing in Brazilian patients with retinitis pigmentosa.
International Journal Of Retina And Vitreous
Costa, Kárita Antunes KA; Salles, Mariana Vallim MV; Whitebirch, Chris C; Chiang, John J; Sallum, Juliana Maria Ferraz JMF
Publication Date: 2017
Variant appearance in text: USH2A: Thr4742Thr
PubMed Link:
28912962
Variant Present in the following documents:
Main text
View BVdb publication page