JAK2 c.1052A>T ;(p.N351I)

Variant ID: 9-5055784-A-T

NM_004972.3(JAK2):c.1052A>T;(p.N351I)

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:

Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.

Molecular Oncology
Andrés-Zayas, Cristina C; Suárez-González, Julia J; Rodríguez-Macías, Gabriela G; Dorado, Nieves N; Osorio, Santiago S; Font, Patricia P; Carbonell, Diego D; Chicano, María M; Muñiz, Paula P; Bastos, Mariana M; Kwon, Mi M; Díez-Martín, José Luis JL; Buño, Ismael I; Martínez-Laperche, Carolina C
Publication Date: 2021-09

Variant appearance in text: JAK2: 1052A>T; Asn351Ile
PubMed Link: 33533142
Variant Present in the following documents:
  • MOL2-15-2273-s001.pdf
View BVdb publication page


Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.

Molecular Oncology
Andrés-Zayas, Cristina C; Suárez-González, Julia J; Rodríguez-Macías, Gabriela G; Dorado, Nieves N; Osorio, Santiago S; Font, Patricia P; Carbonell, Diego D; Chicano, María M; Muñiz, Paula P; Bastos, Mariana M; Kwon, Mi M; Díez-Martín, José Luis JL; Buño, Ismael I; Martínez-Laperche, Carolina C
Publication Date: 2021-09

Variant appearance in text: JAK2: 1052A>T; Asn351Ile
PubMed Link: 33533142
Variant Present in the following documents:
  • MOL2-15-2273-s001.pdf
View BVdb publication page