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Variant (rsID / SNP)

rs147103714

HADHA

rs147103714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,461,825. Clinical significance in the table: Pathogenic.

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Reference-table entries

HADHAPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:26461825
Cytoband
2p23.3
HGVS
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
Allele change
Synonymous_R53R

Associated conditions / phenotypes

Mitochondrial trifunctional protein 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.