Variant (rsID / SNP)
rs781205883
rs781205883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,459,759. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
HADHAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 2:26459759
- Cytoband
- 2p23.3
- HGVS
- NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
Associated conditions / phenotypes
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|HADHA-Related Disorders|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.