Variant (rsID / SNP)
rs61778393
rs61778393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPL. Location: chromosome 1, position 21,902,436. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ALPLBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:21902436
- Cytoband
- 1p36.12
- HGVS
- NM_000478.6(ALPL):c.1189+19G>T
- Allele change
- Silent
Associated conditions / phenotypes
Infantile hypophosphatasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
