Variant (rsID / SNP)

rs121918002

rs121918002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,900,176. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALPLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:21900176
Cytoband: 1p36.12
HGVS: NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)
Allele change: Missense_D239A

Associated conditions / phenotypes

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

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.