BRCA2 c.313_315del ;(p.L105del)

Variant ID: 13-32893459-CTTA-C

NM_000059.3(BRCA2):c.313_315del;(p.L105del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.

Cancers
Gelli, Elisa E; Colombo, Mara M; Pinto, Anna Maria AM; De Vecchi, Giovanna G; Foglia, Claudia C; Amitrano, Sara S; Morbidoni, Valeria V; Imperatore, Valentina V; Manoukian, Siranoush S; Baldassarri, Margherita M; Lo Rizzo, Caterina C; Catania, Lorenza L; Frullanti, Elisa E; Tagliafico, Enrico E; Cortesi, Laura L; Spaggiari, Federica F; Mencarelli, Maria Antonietta MA; Trevisson, Eva E; Radice, Paolo P; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2019-03-01

Variant appearance in text: BRCA2: Leu105del
PubMed Link: 30832263
Variant Present in the following documents:
  • Main text
  • cancers-11-00295.pdf
View BVdb publication page