BRCA1 c.4814T>A ;(p.L1605*)

Variant ID: 17-41223117-A-T

NM_007294.3(BRCA1):c.4814T>A;(p.L1605*)

This variant was identified in 2 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: 4814T>A; Leu1605X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition.

Journal Of The National Cancer Institute
Vos, Janet R JR; Fakkert, Ingrid E IE; de Hullu, Joanne A JA; van Altena, Anne M AM; Sie, Aisha S AS; Ouchene, Hicham H; Willems, Riki W RW; Nagtegaal, Iris D ID; Jongmans, Marjolijn C J MCJ; Mensenkamp, Arjen R AR; Woldringh, Gwendolyn H GH; Bulten, Johan J; Leter, Edward M EM; Kets, C Marleen CM; Simons, Michiel M; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; ,
Publication Date: 2020-02-01

Variant appearance in text: BRCA1: 4814T>A
PubMed Link: 31076742
Variant Present in the following documents:
  • Main text
  • djz080.pdf
View BVdb publication page