Variant (rsID / SNP)

rs2278008

rs2278008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1QTNF3-AMACR, AMACR, SLC45A2. Location: chromosome 5, position 33,989,518. Clinical significance in the table: Benign.

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Reference-table entries

C1QTNF3-AMACRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:33989518
Cytoband: 5p13.2
HGVS: NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)
Allele change: Silent

Associated conditions / phenotypes

Alpha-methylacyl-CoA racemase deficiency|Oculocutaneous albinism|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.