TET2 c.3332T>A ;(p.L1111*)

Variant ID: 4-106158431-T-A

NM_001127208.2(TET2):c.3332T>A;(p.L1111*)

This variant was identified in 4 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: L1111*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics
Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M
Publication Date: 2021-12-14

Variant appearance in text: TET2: L1111*
PubMed Link: 34906245
Variant Present in the following documents:
  • 40246_2021_371_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics
Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M
Publication Date: 2021-12-14

Variant appearance in text: TET2: L1111*
PubMed Link: 34906245
Variant Present in the following documents:
  • 40246_2021_371_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Association of clonal hematopoiesis with chronic obstructive pulmonary disease.

Blood
Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,
Publication Date: 2022-01-20

Variant appearance in text: TET2: L1111*
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
View BVdb publication page



Prevalence of somatic mutations in patients with aplastic anemia using peripheral blood cfDNA as compared with BM.

Leukemia
Albitar, A A; Townsley, D D; Ma, W W; De Dios, I I; Funari, V V; Young, N S NS; Albitar, M M
Publication Date: 2018-01

Variant appearance in text: TET2: Leu1111Ter
PubMed Link: 28832022
Variant Present in the following documents:
  • Main text
  • leu2017271a.pdf
View BVdb publication page