Variant (rsID / SNP)

rs2287939

rs2287939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMACR. Location: chromosome 5, position 33,998,883. Clinical significance in the table: Benign.

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Reference-table entries

AMACRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:33998883
Cytoband: 5p13.2
HGVS: NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)
Allele change: Silent

Associated conditions / phenotypes

Alpha-methylacyl-CoA racemase deficiency|Congenital bile acid synthesis defect 4

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.