BRCA2 c.19G>C ;(p.E7Q)

Variant ID: 13-32890616-G-C

NM_000059.3(BRCA2):c.19G>C;(p.E7Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects.

Frontiers In Oncology
Peixoto, Ana A; Pinto, Pedro P; Guerra, Joana J; Pinheiro, Manuela M; Santos, Catarina C; Pinto, Carla C; Santos, Rui R; Escudeiro, Carla C; Bartosch, Carla C; Canário, Rita R; Barbosa, Ana A; Gouveia, Alfredo A; Petiz, Almerinda A; Abreu, Miguel Henriques MH; Sousa, Susana S; Pereira, Deolinda D; Silva, João J; Teixeira, Manuel R MR
Publication Date: 2020

Variant appearance in text: BRCA2: 19G>C
PubMed Link: 32850417
Variant Present in the following documents:
  • Main text
  • fonc-10-01318.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: 19G>C; Glu7Gln
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page