JAK2 c.471G>C ;(p.W157C)

Variant ID: 9-5050688-G-C

NM_004972.3(JAK2):c.471G>C;(p.W157C)

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:

Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics.

Case Reports In Hematology
Wilson, Rachel R; Syed, Nausheen N; Shah, Prabodh P
Publication Date: 2016

Variant appearance in text: JAK2: 471G>C
PubMed Link: 27034858
Variant Present in the following documents:
  • Main text
View BVdb publication page