NOTCH1 c.5945_5946delinsAT ;(p.R1982H)

Variant ID: 9-139393700-CC-AT

NM_017617.3(NOTCH1):c.5945_5946delinsAT;(p.R1982H)

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: R1982H
PubMed Link: 27997762
Variant Present in the following documents:
  • Main text
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