Variant (rsID / SNP)

rs121917814

rs121917814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMACR. Location: chromosome 5, position 34,007,971. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AMACRPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:34007971
Cytoband: 5p13.2
HGVS: NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)
Allele change: Silent

Associated conditions / phenotypes

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