Variant: rs1054159992 

    present in Gene: ALPL
    present in Chromosome: 1
    Position on Chromosome: 21577448
    Alleles of this Variant: G/A;T

rs1054159992 in ALPL gene and Infantile hypophosphatasia PMID 8954059 1996 Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.

PMID 10834525 2000 Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.

PMID 11438998 2001 Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

PMID 7833929 1994 Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.