Variant (rsID / SNP)
rs121918008
rs121918008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,902,361. Clinical significance in the table: Pathogenic.
Reference-table entries
ALPLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:21902361
- Cytoband
- 1p36.12
- HGVS
- NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)
- Allele change
- Missense_D323V
Associated conditions / phenotypes
Infantile hypophosphatasia|Adult hypophosphatasia|Hypophosphatasia|Childhood hypophosphatasia|Infantile hypophosphatasia|Adult hypophosphatasia|Childhood hypophosphatasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.