Variant (rsID / SNP)
rs875989875
rs875989875 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,194,161. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ACADMPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 1:76194161
- Cytoband
- 1p31.1
- HGVS
- NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)
Associated conditions / phenotypes
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.