Variant (rsID / SNP)

rs121918001

rs121918001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,887,619. 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: 1:21887619
Cytoband: 1p36.12
HGVS: NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)
Allele change: Missense_R16C

Associated conditions / phenotypes

Infantile 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.