PDGFRA Chromosome 4
Platelet derived growth factor receptor alpha
Upload your DNA to see your personal genotypes for variants in PDGFRA.
What This Gene Does
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]
Gene Info
Gene Group
"Receptor tyrosine kinases|CD molecules|I-set domain containing"
Locus Type
gene with protein product
Location
4q12
Ensembl
ENSG00000134853
Associated Conditions (18)
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Idiopathic hypereosinophilic syndrome
Primary intracranial sarcoma
DICER1-mutant
Diffuse midline glioma
H3 K27M-mutant
Polyps
multiple and recurrent inflammatory fibroid
gastrointestinal
Ovarian cancer
PDGFRA-related disorder
Isolated cleft palate
Uterine corpus endometrial carcinoma
Hereditary cancer
Myeloproliferative neoplasm
unclassifiable
Adenocarcinoma of the large intestine
Key Variants
RS1018795199
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
Health Risk
RS1039985533
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
Health Risk
RS1060501503
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
Health Risk
RS1060501504
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
Health Risk
RS1060501506
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
Health Risk
RS1060501507
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
Health Risk
RS1060504254
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Idiopathic hypereosinophilic syndrome
Health Risk
RS1186935022
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
Health Risk
RS1218651787
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS121908585
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Primary intracranial sarcoma, DICER1-mutant
Health Risk
RS121908586
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Polyps, multiple and recurrent inflammatory fibroid
Health Risk
RS121908588
Conflicting classifications of pathogenicity
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
Health Risk
All Variants (250)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769276081 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS769386190 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS769631321 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome, Hereditary cancer-predisposing syndrome |
| RS770129304 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Polyps |
| RS770192760 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS771661933 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS772463000 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS772538462 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS772550148 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS773412686 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS773679384 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome, Hereditary cancer-predisposing syndrome |
| RS774431464 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome, Hereditary cancer-predisposing syndrome |
| RS774522904 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Polyps |
| RS775304724 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS775373016 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS775558761 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS776099721 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Polyps |
| RS776121704 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS777341485 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS777679907 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Polyps |
| RS778036627 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS778161572 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome, Gastrointestinal stromal tumor |
| RS778510648 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome |
| RS778784351 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS779246705 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS779332376 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS779575357 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Polyps |
| RS779958669 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS780125769 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Polyps |
| RS780747709 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Polyps |
| RS781356492 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS781469947 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Gastrointestinal stromal tumor |
| RS878854820 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS878854829 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Polyps |
| RS878854835 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS886059443 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic hypereosinophilic syndrome, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS886059444 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome, Hereditary cancer-predisposing syndrome |
| RS886059446 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic hypereosinophilic syndrome, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS886059447 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome, Gastrointestinal stromal tumor |
| RS904415979 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Polyps |
| RS962273857 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS969139366 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome, Polyps |
| RS975510328 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS121908589 | Health Risk | Pathogenic | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal |
| RS2110338263 | Health Risk | Pathogenic | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal |
| RS2475511518 | Health Risk | Pathogenic | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal |
| RS587776793 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Gastrointestinal stromal tumor |
| RS587776794 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Gastrointestinal stromal tumor |
| RS587776795 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Gastrointestinal stromal tumor |
| RS606231209 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Gastrointestinal stromal tumor |