BRCA2 c.554del ;(p.G185Efs*14)

Variant ID: 13-32900671-AG-A

NM_000059.3(BRCA2):c.554del;(p.G185Efs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Germline pathogenic variants in 786 neuroblastoma patients.

Medrxiv : The Preprint Server For Health Sciences
Kim, Jung J; Vaksman, Zalman Z; Egolf, Laura E LE; Kaufman, Rebecca R; Evans, J Perry JP; Conkrite, Karina L KL; Danesh, Arnavaz A; Lopez, Gonzalo G; Randall, Michael P MP; Dent, Maiah H MH; Farra, Lance M LM; Menghani, Neil N; Dymek, Malwina M; Desai, Heena H; Hausler, Ryan R; , ; , ; , ; Auvil, Jaime Guidry JG; Gerhard, Daniela S DS; Hakonarson, Hakon H; Maxwell, Kara N KN; Cole, Kristina A KA; Pugh, Trevor J TJ; Bosse, Kristopher R KR; Khan, Javed J; Wei, Jun S JS; Maris, John M JM; Stewart, Douglas R DR; Diskin, Sharon J SJ
Publication Date: 2023-01-25

Variant appearance in text: BRCA2: 554delG; G185fs
PubMed Link: 36747619
Variant Present in the following documents:
  • media-2.xlsx, sheet 3
View BVdb publication page