NOTCH1 c.4464G>C ;(p.K1488N)

Variant ID: 9-139399884-C-G

NM_017617.3(NOTCH1):c.4464G>C;(p.K1488N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0.

Journal Of Cellular And Molecular Medicine
Manchev, Vladimir T VT; Bouzid, Hind H; Antony-Debré, Iléana I; Leite, Betty B; Meurice, Guillaume G; Droin, Nathalie N; Prebet, Thomas T; Costello, Régis T RT; Vainchenker, William W; Plo, Isabelle I; Diop, M'boyba M; Macintyre, Elizabeth E; Asnafi, Vahid V; Favier, Rémi R; Baccini, Véronique V; Raslova, Hana H
Publication Date: 2017-06

Variant appearance in text: NOTCH1: K1488N
PubMed Link: 27997762
Variant Present in the following documents:
  • Main text
  • JCMM-21-1237-s002.xlsx, sheet 3
  • JCMM-21-1237.pdf
View BVdb publication page