BRCA1 c.4343del ;(p.S1448Tfs*8)

Variant ID: 17-41234435-GC-G

NM_007294.3(BRCA1):c.4343del;(p.S1448Tfs*8)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA1: 4343del
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
View BVdb publication page



Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

Bmc Cancer
Ruiz de Sabando, Ainara A; Urrutia Lafuente, Edurne E; García-Amigot, Fermín F; Alonso Sánchez, Angel A; Morales Garofalo, Lourdes L; Moreno, Sira S; Ardanaz, Eva E; Ramos-Arroyo, Maria A MA
Publication Date: 2019-11-27

Variant appearance in text: BRCA1: 4343delG
PubMed Link: 31771539
Variant Present in the following documents:
  • Main text
  • 12885_2019_Article_6277.pdf
View BVdb publication page