Variant: rs1383958401 

    present in Gene: VPS13D
    present in Chromosome: 1
    Position on Chromosome: 12276181
    Alleles of this Variant: A/G

rs1383958401 in VPS13D gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 PMID 29518281 2018 Recessive mutations in VPS13D cause childhood onset movement disorders.

PMID 29604224 2018 Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.