JAK2 c.3170C>T ;(p.P1057L)

Variant ID: 9-5123114-C-T

NM_004972.3(JAK2):c.3170C>T;(p.P1057L)

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 and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.

American Journal Of Medical Genetics. Part A
Castilla-Cortázar, Inma I; Rodríguez De Ita, Julieta J; Martín-Estal, Irene I; Castorena, Fabiola F; Aguirre, Gabriel A GA; García de la Garza, Rocío R; Elizondo, Martha I MI
Publication Date: 2017-02

Variant appearance in text: JAK2: 3170C>T
PubMed Link: 27862957
Variant Present in the following documents:
  • Main text
  • AJMG-173-537.pdf
View BVdb publication page