BRCA1 c.8T>A ;(p.L3*)

Variant ID: 17-41276106-A-T

NM_007294.3(BRCA1):c.8T>A;(p.L3*)

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: 8T>A; Leu3X
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: 8T>A; L3*
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page



A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Biomed Research International
Karami, Fatemeh F; Mehdipour, Parvin P
Publication Date: 2013

Variant appearance in text: BRCA1: Leu3X
PubMed Link: 24312913
Variant Present in the following documents:
  • Main text
  • BMRI2013-928562.pdf
View BVdb publication page