TET2 c.1955del ;(p.Q652Rfs*48)

Variant ID: 4-106157054-CA-C

NM_001127208.2(TET2):c.1955del;(p.Q652Rfs*48)

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: Q652Rfs*48
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: TET2: 1955delA; Q652Rfs*48
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis.

Plos One
Traina, Fabiola F; Visconte, Valeria V; Jankowska, Anna M AM; Makishima, Hideki H; O'Keefe, Christine L CL; Elson, Paul P; Han, Yingchun Y; Hsieh, Fred H FH; Sekeres, Mikkael A MA; Mali, Raghuveer Singh RS; Kalaycio, Matt M; Lichtin, Alan E AE; Advani, Anjali S AS; Duong, Hien K HK; Copelan, Edward E; Kapur, Reuben R; Olalla Saad, Sara T ST; Maciejewski, Jaroslaw P JP; Tiu, Ramon V RV
Publication Date: 2012

Variant appearance in text: TET2: 1955_1955delA
PubMed Link: 22905207
Variant Present in the following documents:
  • Main text
View BVdb publication page