TET2 c.419del ;(p.N140Mfs*5)

Variant ID: 4-106155515-CA-C

NM_001127208.2(TET2):c.419del;(p.N140Mfs*5)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation.

Nature Communications
Boy, Maxime M; Bisio, Valeria V; Zhao, Lin-Pierre LP; Guidez, Fabien F; Schell, Bérénice B; Lereclus, Emilie E; Henry, Guylaine G; Villemonteix, Juliette J; Rodrigues-Lima, Fernando F; Gagne, Katia K; Retiere, Christelle C; Larcher, Lise L; Kim, Rathana R; Clappier, Emmanuelle E; Sebert, Marie M; Mekinian, Arsène A; Fain, Olivier O; Caignard, Anne A; Espeli, Marion M; Balabanian, Karl K; Toubert, Antoine A; Fenaux, Pierre P; Ades, Lionel L; Dulphy, Nicolas N
Publication Date: 2023-02-03

Variant appearance in text: TET2: 417delA
PubMed Link: 36737440
Variant Present in the following documents:
  • 41467_2023_36193_MOESM1_ESM.pdf
View BVdb publication page



Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Ejhaem
Cheng, Chi-Keung CK; Lai, Jennifer W Y JWY; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Wong, Raymond S M RSM; Chan, Natalie P H NPH; Cheung, Joyce S JS; Luo, Xi X; Pitts, Herbert-Augustus HA; Ng, Margaret H L MHL
Publication Date: 2022-02

Variant appearance in text: TET2: 419del; N140Mfs*5
PubMed Link: 35846205
Variant Present in the following documents:
  • JHA2-3-184-s002.xlsx, sheet 1
View BVdb publication page



Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel.

Cancers
Froyen, Guy G; Le Mercier, Marie M; Lierman, Els E; Vandepoele, Karl K; Nollet, Friedel F; Boone, Elke E; Van der Meulen, Joni J; Jacobs, Koen K; Lambin, Suzan S; Vander Borght, Sara S; Van Valckenborgh, Els E; Antoniou, Aline A; Hébrant, Aline A
Publication Date: 2019-12-16

Variant appearance in text: TET2: 419del; Asn140Metfs*5
PubMed Link: 31888289
Variant Present in the following documents:
  • Main text
  • cancers-11-02030.pdf
View BVdb publication page