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TET2 c.3578G>T ;(p.C1193F)
Variant ID: 4-106164068-G-T
NM_001127208.2(
TET2
):c.3578G>T;(p.C1193F)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical, Mutational, and Transcriptomic Characteristics in Elderly Korean Individuals With Clonal Hematopoiesis Driver Mutations.
Annals Of Laboratory Medicine
Moon, Inki I; Kong, Min Gyu MG; Ji, Young Sok YS; Kim, Se Hyung SH; Park, Seong Kyu SK; Suh, Jon J; Jang, Mi-Ae MA
Publication Date: 2023-03-01
Variant appearance in text: TET2: 3578G>T; Cys1193Phe
PubMed Link:
36281508
Variant Present in the following documents:
alm-43-2-145-supple2.pdf
View BVdb publication page
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Blood Advances
Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q
Publication Date: 2022-09-27
Variant appearance in text: TET2: C1193F
PubMed Link:
35687490
Variant Present in the following documents:
advancesADV2021006654-suppl12.xlsx, sheet 1
advancesADV2021006654-suppl4.xlsx, sheet 6
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: C1193F
PubMed Link:
34413458
Variant Present in the following documents:
41375_2021_1382_MOESM2_ESM.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: 3578G>T; Cys1193Phe
PubMed Link:
31187595
Variant Present in the following documents:
View BVdb publication page