Variant (rsID / SNP)
rs121912701
rs121912701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACY1. Location: chromosome 3, position 52,023,042. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ACY1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:52023042
- Cytoband
- 3p21.2
- HGVS
- NM_000666.3(ACY1):c.1178G>A (p.Arg393His)
- Allele change
- Missense_R483H
Associated conditions / phenotypes
Aminoacylase 1 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.