Variant (rsID / SNP)

rs121917816

rs121917816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMACR. Location: chromosome 5, position 34,005,932. Clinical significance in the table: Pathogenic.

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Reference-table entries

AMACRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:34005932
Cytoband: 5p13.2
HGVS: NM_014324.6(AMACR):c.320T>C (p.Leu107Pro)
Allele change: Silent

Associated conditions / phenotypes

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.