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.




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