Variant (rsID / SNP)

rs387906525

rs387906525 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,904,125. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALPLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:21904125
Cytoband: 1p36.12
HGVS: NM_000478.6(ALPL):c.1559del (p.Leu520fs)

Associated conditions / phenotypes

Infantile hypophosphatasia|Hypophosphatasia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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