Variant (rsID / SNP)
rs121918007
rs121918007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,890,632. 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
- 1:21890632
- Cytoband
- 1p36.12
- HGVS
- NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
- Allele change
- Missense_E136K
Associated conditions / phenotypes
Infantile hypophosphatasia|Childhood hypophosphatasia|Adult hypophosphatasia|Hypophosphatasia|Childhood hypophosphatasia|Infantile hypophosphatasia|Adult hypophosphatasia|Odontohypophosphatasia|Delayed skeletal maturation|Osteogenesis imperfecta
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.