Version 2.77

Part Description

LP94848-6   PDGFRA gene
The PDGFRA gene (platelet-derived growth factor receptor, alpha polypeptide) [HGNC Gene ID:8803] is located on chromosome 4q12. Over 400 unique mutations have been found in the PDGFRA gene.[COSMIC: PDGFRA] This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] [NCBI Gene ID:5156] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
PDGFRA gene mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
PDGFRA Mut Tested Bld/T
Display Name
PDGFRA gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
PDGFRA gene variants tested for, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77
Order vs. Observation
Both

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=104292-8