BRCA2 c.1000del ;(p.H334Mfs*15)

Variant ID: 13-32906613-TC-T

NM_000059.3(BRCA2):c.1000del;(p.H334Mfs*15)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Epithelial ovarian cancer risk: A review of the current genetic landscape.

Clinical Genetics
Flaum, Nicola N; Crosbie, Emma J EJ; Edmondson, Richard J RJ; Smith, Miriam J MJ; Evans, Dafydd G DG
Publication Date: 2020-01

Variant appearance in text: BRCA2: 999del
PubMed Link: 31099061
Variant Present in the following documents:
  • Main text
  • CGE-97-54.pdf
View BVdb publication page



Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.

Bmc Medical Genetics
Filippini, Sandra S; Blanco, Ana A; Fernández-Marmiesse, Ana A; Alvarez-Iglesias, Vanesa V; Ruíz-Ponte, Clara C; Carracedo, Angel A; Vega, Ana A
Publication Date: 2007-06-29

Variant appearance in text: BRCA2: 999del
PubMed Link: 17603881
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-40.pdf
View BVdb publication page