NF1 c.1342C>T ;(p.H448Y)

Variant ID: 17-29533339-C-T

NM_001042492.2(NF1):c.1342C>T;(p.H448Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Panel-based next-generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings.

Biomedical Reports
Ishida, Hisashi H; Iguchi, Akihiro A; Aoe, Michinori M; Nishiuchi, Ritsuo R; Matsubara, Takehiro T; Keino, Dai D; Sanada, Masashi M; Shimada, Akira A
Publication Date: 2020-11

Variant appearance in text: NF1: H448Y
PubMed Link: 32934818
Variant Present in the following documents:
  • Main text
  • br-13-05-01353.pdf
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: NF1: 1342C>T
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page