Variant (rsID / SNP)
rs121918014
rs121918014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,903,075. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ALPLPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:21903075
- Cytoband
- 1p36.12
- HGVS
- NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
- Allele change
- Missense_N362S
Associated conditions / phenotypes
Infantile hypophosphatasia|Perinatal lethal hypophosphatasia|Hypophosphatasia|Adult hypophosphatasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.