Variant (rsID / SNP)
rs72809666
rs72809666 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,467,465. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HADHAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:26467465
- Cytoband
- 2p23.3
- HGVS
- NM_000182.5(HADHA):c.-1G>T
- Allele change
- Silent
Associated conditions / phenotypes
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.