JAK2 c.1107del ;(p.I369Mfs*7)

Variant ID: 9-5064931-AT-A

NM_004972.3(JAK2):c.1107del;(p.I369Mfs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.

Leukemia
Lim, Tristan L TL; Lieberman, David B DB; Davis, Adam R AR; Loren, Alison W AW; Hausler, Ryan R; Bigdeli, Ashkan A; Li, Yimei Y; Powers, Jacquelyn J; Raper, Anna A; Regeneron Genetics Center, ; Carty, Shannon A SA; Nathanson, Katherine L KL; Bagg, Adam A; Hexner, Elizabeth O EO; Maxwell, Kara N KN; Morrissette, Jennifer J D JJD; Babushok, Daria V DV
Publication Date: 2022-01

Variant appearance in text: JAK2: 1107delT
PubMed Link: 34193977
Variant Present in the following documents:
  • nihms-1716876.pdf
View BVdb publication page