Variant (rsID / SNP)
rs9282594
rs9282594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMACR. Location: chromosome 5, position 33,998,773. Clinical significance in the table: Benign.
Reference-table entries
AMACRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:33998773
- Cytoband
- 5p13.2
- HGVS
- NM_014324.6(AMACR):c.712C>T (p.Pro238Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Alpha-methylacyl-CoA racemase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.