Variant (rsID / SNP)
rs181341030
rs181341030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMACR. Location: chromosome 5, position 33,989,503. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
AMACRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:33989503
- Cytoband
- 5p13.2
- HGVS
- NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)
- Allele change
- Silent
Associated conditions / phenotypes
Mitochondrial complex I deficiency|Alpha-methylacyl-CoA racemase deficiency|Congenital bile acid synthesis defect 4|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.