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Variant (rsID / SNP)

rs367543286

PDGFRB

rs367543286 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDGFRB. Location: chromosome 5, position 149,505,134. Clinical significance in the table: Pathogenic.

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Reference-table entries

PDGFRBPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
5:149505134
Cytoband
5q32
HGVS
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)
Allele change
Missense_R497C

Associated conditions / phenotypes

Myofibromatosis, 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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.