Variant: rs398122386 

    present in Gene: POLD1
    present in Chromosome: 19
    Position on Chromosome: 50408818
    Alleles of this Variant: CTC/-

rs398122386 in POLD1 gene and Neoplastic Syndromes, Hereditary PMID 26350127 2015 Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

PMID 26172944 2015 POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

PMID 23770608 2013 An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.