Variant: rs373856119 

    present in Gene: DDHD2
    present in Chromosome: 8
    Position on Chromosome: 38252216
    Alleles of this Variant: C/T

rs373856119 in DDHD2 gene and SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE PMID 23176823 2012 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.