Variant (rsID / SNP)

rs121918013

rs121918013 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,889,651. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALPLPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:21889651
Cytoband: 1p36.12
HGVS: NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)
Allele change: Missense_A61T

Associated conditions / phenotypes

Odontohypophosphatasia|Childhood hypophosphatasia|Adult hypophosphatasia|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.