Variant (rsID / SNP)
rs121918009
rs121918009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,902,229. 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
- 1:21902229
- Cytoband
- 1p36.12
- HGVS
- NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)
- Allele change
- Missense_G279D
Associated conditions / phenotypes
Infantile hypophosphatasia|Hypophosphatasia|Childhood hypophosphatasia|Infantile hypophosphatasia|Adult hypophosphatasia|Adult hypophosphatasia|Osteogenesis imperfecta
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.