Variant (rsID / SNP)
rs781222705
rs781222705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,461,799. Clinical significance in the table: Pathogenic.
Reference-table entries
HADHAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:26461799
- Cytoband
- 2p23.3
- HGVS
- NM_000182.5(HADHA):c.180+3A>G
- Allele change
- Silent
Associated conditions / phenotypes
Mitochondrial trifunctional protein deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.