JAK2 c.1633_1635del ;(p.L545del)

Variant ID: 9-5070044-TTTG-T

NM_004972.3(JAK2):c.1633_1635del;(p.L545del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Background of Polycythemia Vera.

Genes
Regimbeau, Mathilde M; Mary, Romain R; Hermetet, François F; Girodon, François F
Publication Date: 2022-04-02

Variant appearance in text: JAK2: L545del
PubMed Link: 35456443
Variant Present in the following documents:
  • Main text
  • genes-13-00637.pdf
View BVdb publication page



Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

Haematologica
Schnittger, Susanne S; Bacher, Ulrike U; Haferlach, Claudia C; Geer, Thomas T; Müller, Peter P; Mittermüller, Johann J; Petrides, Petro P; Schlag, Rudolf R; Sandner, Reiner R; Selbach, Johannes J; Slawik, Hans Rainer HR; Tessen, Hans Werner HW; Wehmeyer, Jürgen J; Kern, Wolfgang W; Haferlach, Torsten T
Publication Date: 2009-03

Variant appearance in text: JAK2: L545del
PubMed Link: 19252176
Variant Present in the following documents:
  • Main text
View BVdb publication page