Variant (rsID / SNP)

rs121912699

rs121912699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACY1. Location: chromosome 3, position 52,021,204. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACY1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:52021204
Cytoband: 3p21.2
HGVS: NM_000666.3(ACY1):c.699A>C (p.Glu233Asp)
Allele change: Missense_E323D

Associated conditions / phenotypes

Aminoacylase 1 deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.