BRCA1 c.1023T>C ;(p.D341=)

Variant ID: 17-41246525-A-G

NM_007294.3(BRCA1):c.1023T>C;(p.D341=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics
Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A
Publication Date: 2019-01-10

Variant appearance in text: BRCA1: 1023T>C
PubMed Link: 30630528
Variant Present in the following documents:
  • 40246_2018_188_MOESM2_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: 1023T>C
PubMed Link: 27272900
Variant Present in the following documents:
  • Main text
  • pgen.1006096.pdf
View BVdb publication page