Variant: rs397509381 

    present in Gene: PDGFRB
    present in Chromosome: 5
    Position on Chromosome: 150124300
    Alleles of this Variant: A/G

rs397509381 in PDGFRB gene and BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 PMID 23255827 2013 Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

PMID 26599395 2015 Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

PMID 24065723 2013 Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.