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Gene entry

PDGFRB

platelet derived growth factor receptor beta

Chromosome
5
Cytoband
5q32
Variants (rsID)
23

PDGFRB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q32). Its official name is “platelet derived growth factor receptor beta”. The reference table lists 23 variants (rsID) for this gene.

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Clinically classified variants

2 reference-table entries with clinical significance.

  • rs374239531Likely benignsingle nucleotide variant
  • rs367543286Pathogenicsingle nucleotide variantMyofibromatosis, infantile, 1|Infantile myofibromatosis|Basal ganglia calcification, idiopathic, 4|Infantile myofibromatosis|Acroosteolysis-keloid-like lesions-premature aging syndrome|Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome|Basal ganglia calcification, idiopathic, 4

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.