Variant: rs72552258 

    present in Gene: BBOF1;ALDH6A1
    present in Chromosome: 14
    Position on Chromosome: 74065249
    Alleles of this Variant: C/T

rs72552258 in BBOF1;ALDH6A1 gene and Methylmalonate Semialdehyde Dehydrogenase Deficiency PMID 10947204 2000 Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.