Variant (rsID / SNP)
rs137852769
rs137852769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,418,053. Clinical significance in the table: Pathogenic.
Reference-table entries
HADHAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:26418053
- Cytoband
- 2p23.3
- HGVS
- NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
- Allele change
- Missense_E510Q
Associated conditions / phenotypes
Lchad deficiency with maternal acute fatty liver of pregnancy|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Inborn genetic diseases|HADHA-Related Disorders|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.