JAK2 c.2025T>A ;(p.C675*)

Variant ID: 9-5078338-T-A

NM_004972.3(JAK2):c.2025T>A;(p.C675*)

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:

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: JAK2: C675X
PubMed Link: 29641532
Variant Present in the following documents:
  • Main text
View BVdb publication page