Gene entry
ALPL
alkaline phosphatase, biomineralization associated
- Chromosome
- 1
- Cytoband
- 1p36.12
- Variants (rsID)
- 34
ALPL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.12). Its official name is “alkaline phosphatase, biomineralization associated”. The reference table lists 34 variants (rsID) for this gene.
Clinically classified variants
19 reference-table entries with clinical significance.
- rs1772719Benignsingle nucleotide variantHypophosphatasia
- rs2242420Benignsingle nucleotide variantHypophosphatasia
- rs61778393Benignsingle nucleotide variantInfantile hypophosphatasia
- rs121918003Conflicting interpretationssingle nucleotide variantInfantile hypophosphatasia
- rs121918005Conflicting interpretationssingle nucleotide variantInfantile hypophosphatasia|Hypophosphatasia|Childhood hypophosphatasia
- rs121918018Conflicting interpretationssingle nucleotide variantChildhood hypophosphatasia|Odontohypophosphatasia|Infantile hypophosphatasia|Hypophosphatasia
- rs148405563Conflicting interpretationssingle nucleotide variantHypophosphatasia
- rs121918000Pathogenicsingle nucleotide variantInfantile hypophosphatasia|Hypophosphatasia
- rs121918001Pathogenicsingle nucleotide variantInfantile hypophosphatasia
- rs121918002Pathogenicsingle nucleotide variantInfantile hypophosphatasia|Childhood hypophosphatasia|Adult hypophosphatasia|Hypophosphatasia|Osteogenesis imperfecta
- rs121918004Pathogenicsingle nucleotide variantInfantile hypophosphatasia
- rs121918007Pathogenicsingle nucleotide variantInfantile hypophosphatasia|Childhood hypophosphatasia|Adult hypophosphatasia|Hypophosphatasia|Childhood hypophosphatasia|Infantile hypophosphatasia|Adult hypophosphatasia|Odontohypophosphatasia|Delayed skeletal maturation|Osteogenesis imperfecta
- rs121918008Pathogenicsingle nucleotide variantInfantile hypophosphatasia|Adult hypophosphatasia|Hypophosphatasia|Childhood hypophosphatasia|Infantile hypophosphatasia|Adult hypophosphatasia|Childhood hypophosphatasia
- rs121918009Pathogenicsingle nucleotide variantInfantile hypophosphatasia|Hypophosphatasia|Childhood hypophosphatasia|Infantile hypophosphatasia|Adult hypophosphatasia|Adult hypophosphatasia|Osteogenesis imperfecta
- rs121918010Pathogenicsingle nucleotide variantInfantile hypophosphatasia|Hypophosphatasia|Adult hypophosphatasia
- rs121918011Pathogenicsingle nucleotide variantChildhood hypophosphatasia|Infantile hypophosphatasia|Hypophosphatasia|Adult hypophosphatasia|Osteogenesis imperfecta
- rs121918013Pathogenicsingle nucleotide variantOdontohypophosphatasia|Childhood hypophosphatasia|Adult hypophosphatasia|Infantile hypophosphatasia|Hypophosphatasia
- rs121918014Pathogenicsingle nucleotide variantInfantile hypophosphatasia|Perinatal lethal hypophosphatasia|Hypophosphatasia|Adult hypophosphatasia
- rs387906525PathogenicDeletionInfantile hypophosphatasia|Hypophosphatasia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.