JAK2 c.2396_2397delinsTG ;(p.R799M)

Variant ID: 9-5080645-GA-TG

NM_004972.3(JAK2):c.2396_2397delinsTG;(p.R799M)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancer.

Cold Spring Harbor Molecular Case Studies
Bell, Hannah N HN; Kumar-Sinha, Chandan C; Mannan, Rahul R; Zakalik, Dana D; Zhang, Yuping Y; Mehra, Rohit R; Jagtap, Deepa D; Dhanasekaran, Saravana M SM; Vaishampayan, Ulka U
Publication Date: 2022-04

Variant appearance in text: JAK2: R799M
PubMed Link: 35483881
Variant Present in the following documents:
  • Main text
  • MCS006203Bel.pdf
View BVdb publication page