BRCA1 c.4762G>T ;(p.A1588S)

Variant ID: 17-41223169-C-A

NM_007294.3(BRCA1):c.4762G>T;(p.A1588S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: BRCA1: 4762G>T; Ala1588Ser
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA1: A1588S
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Genome re-sequencing to identify single nucleotide polymorphism markers for muscle color traits in broiler chickens.

Asian-Australasian Journal Of Animal Sciences
Kong, H R HR; Anthony, N B NB; Rowland, K C KC; Khatri, B B; Kong, B C BC
Publication Date: 2018-01

Variant appearance in text: BRCA1: 4762G>T; A1588S
PubMed Link: 28830129
Variant Present in the following documents:
  • Main text
  • ajas-31-1-13.pdf
View BVdb publication page