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Variant (rsID / SNP)

rs121918018

ALPL

rs121918018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,894,694. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALPLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:21894694
Cytoband
1p36.12
HGVS
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
Allele change
Missense_G194V

Associated conditions / phenotypes

Childhood hypophosphatasia|Odontohypophosphatasia|Infantile hypophosphatasia|Hypophosphatasia

Public references

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