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