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Variant (rsID / SNP)

rs116320983

HADHA

rs116320983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,453,147. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HADHAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:26453147
Cytoband
2p23.3
HGVS
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser)
Allele change
Missense_A197S

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.