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BRCA2 c.4440T>A ;(p.Y1480*)
Variant ID: 13-32912932-T-A
NM_000059.3(
BRCA2
):c.4440T>A;(p.Y1480*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Meiotic Recombination Defects and Premature Ovarian Insufficiency.
Frontiers In Cell And Developmental Biology
Huang, Chengzi C; Guo, Ting T; Qin, Yingying Y
Publication Date: 2021
Variant appearance in text: FANCD1: Y1480*
PubMed Link:
33763429
Variant Present in the following documents:
Main text
fcell-09-652407.pdf
View BVdb publication page
Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.
Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020
Variant appearance in text: BRCA2: 4440T>A; Tyr1480X
PubMed Link:
32377563
Variant Present in the following documents:
41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.
Journal Of The Endocrine Society
França, Monica Malheiros MM; Mendonca, Berenice Bilharinho BB
Publication Date: 2020-02-01
Variant appearance in text: BRCA2: Tyr1480*
PubMed Link:
32099950
Variant Present in the following documents:
Main text
bvz037.pdf
View BVdb publication page