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Variant (rsID / SNP)

rs121918011

ALPL

rs121918011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,889,712. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ALPLPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:21889712
Cytoband
1p36.12
HGVS
NM_000478.6(ALPL):c.407G>A (p.Arg136His)
Allele change
Missense_R81H

Associated conditions / phenotypes

Childhood hypophosphatasia|Infantile hypophosphatasia|Hypophosphatasia|Adult hypophosphatasia|Osteogenesis imperfecta

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.