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Variant (rsID / SNP)

rs143832445

HADHA

rs143832445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,462,000. 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
2:26462000
Cytoband
2p23.3
HGVS
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
Allele change
Missense_R27C

Associated conditions / phenotypes

Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|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.