Variant: rs369698072 

    present in Gene: NBAS
    present in Chromosome: 2
    Position on Chromosome: 15238670
    Alleles of this Variant: C/A;T

rs369698072 in NBAS gene and SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY PMID 20577004 2010 Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state.