Variant (rsID / SNP)
rs786204566
rs786204566 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,198,565. Clinical significance in the table: Pathogenic.
Reference-table entries
ACADMPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 1:76198565
- Cytoband
- 1p31.1
- HGVS
- NM_000016.6(ACADM):c.244dup (p.Trp82fs)
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.