TET2 c.4889C>A ;(p.S1630*)

Variant ID: 4-106196556-C-A

NM_001127208.2(TET2):c.4889C>A;(p.S1630*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: TET2: S1630*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



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: S1630X
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Somatic mutations and T-cell clonality in patients with immunodeficiency.

Haematologica
Savola, Paula P; Martelius, Timi T; Kankainen, Matti M; Huuhtanen, Jani J; Lundgren, Sofie S; Koski, Yrjö Y; Eldfors, Samuli S; Kelkka, Tiina T; Keränen, Mikko A I MAI; Ellonen, Pekka P; Kovanen, Panu E PE; Kytölä, Soili S; Saarela, Janna J; Lähdesmäki, Harri H; Seppänen, Mikko R J MRJ; Mustjoki, Satu S
Publication Date: 2020-12-01

Variant appearance in text: TET2: S1630X
PubMed Link: 33256375
Variant Present in the following documents:
  • 2019_220889_SAVOLA_SUPPL.pdf
  • 1052757.pdf
View BVdb publication page