DNMT3A c.2096G>T ;(p.G699V)

Variant ID: 2-25463586-C-A

NM_022552.4(DNMT3A):c.2096G>T;(p.G699V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: DNMT3A: G699V
PubMed Link: 34855941
Variant Present in the following documents:
  • bloodBLD2021013531-suppl1.pdf
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
View BVdb publication page



Clonal hematopoiesis in elderly twins: concordance, discordance, and mortality.

Blood
Hansen, Jakob Werner JW; Pedersen, Dorthe Almind DA; Larsen, Lisbeth Aagaard LA; Husby, Simon S; Clemmensen, Signe Bedsted SB; Hjelmborg, Jacob J; Favero, Francesco F; Weischenfeldt, Joachim J; Christensen, Kaare K; Grønbæk, Kirsten K
Publication Date: 2020-01-23

Variant appearance in text: DNMT3A: 2096G>T; Gly699Val
PubMed Link: 31697811
Variant Present in the following documents:
  • Main text
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: DNMT3A: 2096G>T; Gly699Val
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s4.xlsx, sheet 9
  • bty518_supplementary_data_s3.xlsx, sheet 9
View BVdb publication page