JAK2 c.1603A>G ;(p.M535V)

Variant ID: 9-5070014-A-G

NM_004972.3(JAK2):c.1603A>G;(p.M535V)

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:

Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

Blood
Lanikova, Lucie L; Lorenzo, Felipe F; Yang, Chunzhang C; Vankayalapati, Hari H; Drachtman, Richard R; Divoky, Vladimir V; Prchal, Josef T JT
Publication Date: 2013-05-09

Variant appearance in text: JAK2: 1603A>G; M535V
PubMed Link: 23538339
Variant Present in the following documents:
  • Main text
View BVdb publication page