Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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