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Variant (rsID / SNP)

rs137852770

HADHA

rs137852770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,427,019. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HADHAPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:26427019
Cytoband
2p23.3
HGVS
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)
Allele change
Nonsense_Q378X

Associated conditions / phenotypes

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