Variant (rsID / SNP)

rs10941112

rs10941112 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMACR. Location: chromosome 5, position 34,004,707. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AMACRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:34004707
Cytoband: 5p13.2
HGVS: NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)
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.