BRCA1 c.4662A>T ;(p.P1554=)

Variant ID: 17-41226361-T-A

NM_007294.3(BRCA1):c.4662A>T;(p.P1554=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA1: P1554P
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.

Plos Genetics
Thouvenot, Pierre P; Ben Yamin, Barbara B; Fourrière, Lou L; Lescure, Aurianne A; Boudier, Thomas T; Del Nery, Elaine E; Chauchereau, Anne A; Goldgar, David E DE; Houdayer, Claude C; Stoppa-Lyonnet, Dominique D; Nicolas, Alain A; Millot, Gaël A GA
Publication Date: 2016-06

Variant appearance in text: BRCA1: 4662A>T
PubMed Link: 27272900
Variant Present in the following documents:
  • Main text
  • pgen.1006096.pdf
View BVdb publication page