JAK2 c.1546_1547delinsAC ;(p.G516T)

Variant ID: 9-5069957-GG-AC

NM_004972.3(JAK2):c.1546_1547delinsAC;(p.G516T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Annals Of Hematology
Stockklausner, Clemens C; Duffert, C M CM; Cario, H H; Knöfler, R R; Streif, W W; Kulozik, A E AE; ,
Publication Date: 2021-07

Variant appearance in text: JAK2: G516T
PubMed Link: 33712866
Variant Present in the following documents:
  • Main text
  • 277_2021_Article_4485.pdf
View BVdb publication page



Clinical utility gene card for: hereditary thrombocythemia.

European Journal Of Human Genetics : Ejhg
Hussein, Kais K; Percy, Melanie M; McMullin, Mary Frances MF; Schwarz, Jiří J; Schnittger, Susanne S; Porret, Naomi N; Martinez-Aviles, Luz Maria LM; Paricio, Beatriz Bellosillo BB; Giraudier, Stéphane S; Skoda, Radek R; Lippert, Eric E; Hermouet, Sylvie S; Cario, Holger H
Publication Date: 2014-02

Variant appearance in text: JAK2: G516T
PubMed Link: 23736217
Variant Present in the following documents:
  • Main text
View BVdb publication page