Gene entry
PDGFRA
platelet derived growth factor receptor alpha
- Chromosome
- 4
- Cytoband
- 4q12
- Variants (rsID)
- 22
PDGFRA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q12). Its official name is “platelet derived growth factor receptor alpha”. The reference table lists 22 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs36035373Benignsingle nucleotide variantGastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome|Idiopathic hypereosinophilic syndrome
- rs3733540Benignsingle nucleotide variant
- rs61735626Benignsingle nucleotide variantGastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome
- rs77524207Benignsingle nucleotide variantGastrointestinal stromal tumor|Idiopathic hypereosinophilic syndrome|Hereditary cancer-predisposing syndrome
- rs139913632Conflicting interpretationssingle nucleotide variantGastrointestinal stromal tumor|Idiopathic hypereosinophilic syndrome|Hereditary cancer-predisposing syndrome|Myeloproliferative neoplasm, unclassifiable
- rs149951350Conflicting interpretationssingle nucleotide variantGastrointestinal stromal tumor|Idiopathic hypereosinophilic syndrome|Hereditary cancer-predisposing syndrome|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
- rs150577828Conflicting interpretationssingle nucleotide variantGastrointestinal stromal tumor|Idiopathic hypereosinophilic syndrome|Hereditary cancer-predisposing syndrome|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
- rs181854060Conflicting interpretationssingle nucleotide variantIsolated cleft palate|Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome
- rs35597368Conflicting interpretationssingle nucleotide variantGastrointestinal stromal tumor|Idiopathic hypereosinophilic syndrome|Hereditary cancer-predisposing syndrome|Myeloproliferative neoplasm, unclassifiable
- rs55966236Conflicting interpretationssingle nucleotide variantGastrointestinal stromal tumor|Idiopathic hypereosinophilic syndrome|Hereditary cancer-predisposing syndrome
- rs56384252Conflicting interpretationssingle nucleotide variantGastrointestinal stromal tumor|Idiopathic hypereosinophilic syndrome|Hereditary cancer-predisposing syndrome
- rs201874958Likely benignsingle nucleotide variantGastrointestinal stromal tumor
- rs2291591Likely pathogenicsingle nucleotide variantMyeloproliferative neoplasm, unclassifiable
- rs201503614Uncertain significancesingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.