TSC2 c.3277dup ;(p.E1093Gfs*75)

Variant ID: 16-2129420-C-CG

NM_000548.3(TSC2):c.3277dup;(p.E1093Gfs*75)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Duplication of ALK F1245 missense mutation due to acquired uniparental disomy associated with aggressive progression in a patient with relapsed neuroblastoma.

Oncology Letters
Kimura, Shunsuke S; Hasegawa, Daisuke D; Yoshimoto, Yuri Y; Seki, Masafumi M; Daida, Atsuro A; Sekiguchi, Masahiro M; Hirabayashi, Shinsuke S; Hosoya, Yosuke Y; Kobayashi, Masao M; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J; Manabe, Atsushi A
Publication Date: 2019-03

Variant appearance in text: TSC2: 3276dupG
PubMed Link: 30867766
Variant Present in the following documents:
  • Main text
  • ol-17-03-3323.pdf
View BVdb publication page