TET2 c.2479G>A ;(p.A827T)

Variant ID: 4-106157578-G-A

NM_001127208.2(TET2):c.2479G>A;(p.A827T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: TET2: A827T
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Structural aberrations are associated with poor survival in patients with clonal cytopenia of undetermined significance.

Haematologica
Mikkelsen, Stine U SU; Safavi, Setareh S; Dimopoulos, Konstantinos K; O'Rourke, Colm J CJ; Andersen, Mette K MK; Holm, Mette S MS; Marcher, Claus W CW; Andersen, Jesper B JB; Hansen, Jakob W JW; Grønbæk, Kirsten K
Publication Date: 2021-06-01

Variant appearance in text: TET2: 2479G>A; Ala827Thr
PubMed Link: 33179473
Variant Present in the following documents:
  • 2020_263319_MIKKELSEN_SUPPL.pdf
View BVdb publication page



Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts.

British Journal Of Haematology
Conte, Simona S; Katayama, Shintaro S; Vesterlund, Liselotte L; Karimi, Mohsen M; Dimitriou, Marios M; Jansson, Monika M; Mortera-Blanco, Teresa T; Unneberg, Per P; Papaemmanuil, Elli E; Sander, Birgitta B; Skoog, Tiina T; Campbell, Peter P; Walfridsson, Julian J; Kere, Juha J; Hellström-Lindberg, Eva E
Publication Date: 2015-11

Variant appearance in text: TET2: A827T
PubMed Link: 26255870
Variant Present in the following documents:
  • BJH-171-478-s001.pdf
View BVdb publication page