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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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