TET2 c.2483G>A ;(p.C828Y)

Variant ID: 4-106157582-G-A

NM_001127208.2(TET2):c.2483G>A;(p.C828Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Cancer carrier screening in the general population using whole-genome sequencing.

Cancer Medicine
Chang, Ya-Sian YS; Chao, Dy-San DS; Chung, Chin-Chun CC; Chou, Yu-Pao YP; Chang, Chieh-Min CM; Lin, Chia-Li CL; Chu, Hou-Wei HW; Chen, Hon-Da HD; Liu, Ting-Yuan TY; Juan, Yu-Hsuan YH; Chang, Shun-Jen SJ; Chang, Jan-Gowth JG
Publication Date: 2022-07-21

Variant appearance in text: TET2: 2483G>A
PubMed Link: 35861108
Variant Present in the following documents:
  • CAM4-12-1972-s007.xlsx, sheet 1
View BVdb publication page



Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure
Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA
Publication Date: 2021-06

Variant appearance in text: TET2: 2483G>A; C828Y
PubMed Link: 33779075
Variant Present in the following documents:
  • EHF2-8-1873-s002.xlsx, sheet 1
View BVdb publication page



TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine
Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P
Publication Date: 2019-07

Variant appearance in text: TET2: 2483G>A; Cys828Tyr; rs371864789
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page