JAK2 c.1529T>C ;(p.L510P)

Variant ID: 9-5069940-T-C

NM_004972.3(JAK2):c.1529T>C;(p.L510P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clonal hematopoiesis is not significantly associated with COVID-19 disease severity.

Blood
Zhou, Yifan Y; Shalhoub, Ruba R; Rogers, Stephanie N SN; Yu, Shiqin S; Gu, Muxin M; Fabre, Margarete A MA; Quiros, Pedro M PM; Shin, Tae-Hoon TH; Diangson, Arch A; Deng, Wenhan W; Anand, Shubha S; Lu, Wenhua W; Cullen, Matthew M; Godfrey, Anna L AL; Preller, Jacobus J; Hadjadj, Jerome J; Jouanguy, Emmanuelle E; Cobat, Aurélie A; Abel, Laurent L; Rieux-Laucat, Frederic F; Terrier, Benjamin B; Fischer, Alain A; Novik, Lara L; Gordon, Ingelise J IJ; Strom, Larisa L; Gaudinski, Martin R MR; Lisco, Andrea A; Sereti, Irini I; Gniadek, Thomas J TJ; Biondi, Andrea A; Bonfanti, Paolo P; Imberti, Luisa L; Dalgard, Clifton L CL; Zhang, Yu Y; Dobbs, Kerry K; Su, Helen C HC; Notarangelo, Luigi D LD; Wu, Colin O CO; Openshaw, Peter J M PJM; Semple, Malcolm G MG; Mallat, Ziad Z; Baillie, Kenneth K; Dunbar, Cynthia E CE; Vassiliou, George S GS
Publication Date: 2022-10-06

Variant appearance in text: JAK2: L510P
PubMed Link: 35839449
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



MPL Y252H anMd PL F126fs mutations in essential thrombocythemia: Case series and review of literature.

Hematology Reports
Elsayed, Ahmed G AG; Ranavaya, Aeesha A; Jamil, Muhammad Omer MO
Publication Date: 2019-02-19

Variant appearance in text: JAK2: L510P
PubMed Link: 30996850
Variant Present in the following documents:
  • Main text
View BVdb publication page