BRCA1 c.5430G>C ;(p.V1810=)

Variant ID: 17-41199697-C-G

NM_007294.3(BRCA1):c.5430G>C;(p.V1810=)

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: 5430G>C
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: V1810=
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page



Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.

Plos One
Vaca-Paniagua, Felipe F; Alvarez-Gomez, Rosa María RM; Fragoso-Ontiveros, Verónica V; Vidal-Millan, Silvia S; Herrera, Luis Alonso LA; Cantú, David D; Bargallo-Rocha, Enrique E; Mohar, Alejandro A; López-Camarillo, César C; Pérez-Plasencia, Carlos C
Publication Date: 2012

Variant appearance in text: BRCA1: V1810V
PubMed Link: 22655046
Variant Present in the following documents:
  • Main text
  • pone.0037432.pdf
View BVdb publication page