BRCA1 c.3951G>A ;(p.L1317=)

Variant ID: 17-41243597-C-T

NM_007294.3(BRCA1):c.3951G>A;(p.L1317=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Validation of AmpliSeq NGS Panel for BRCA1 and BRCA2 Variant Detection in Canine Formalin-Fixed Paraffin-Embedded Mammary Tumors.

Life (Basel, Switzerland)
Di Giacomo, Daniela D; Di Domenico, Marco M; Defourny, Sabrina Vanessa Patrizia SVP; Malatesta, Daniela D; Di Teodoro, Giovanni G; Martino, Michele M; Viola, Antonello A; D'Alterio, Nicola N; Cammà, Cesare C; Modesto, Paola P; Petrini, Antonio A
Publication Date: 2022-06-07

Variant appearance in text: BRCA1: 3951G>A; Leu1317=
PubMed Link: 35743882
Variant Present in the following documents:
  • life-12-00851.pdf
View BVdb publication page



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: L1317L
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page