Table 10.

Notable HADHA Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment [Reference]
NM_000182​.5
NP_000173​.2 		c.1528G>Cp.Glu510GlnMost common HADHA pathogenic variant; homozygous persons have LCHAD deficiency [Ijlst et al 1996]. Founder variant in persons of Kashubian ancestry [Piekutowska-Abramczuk et al 2010, Nedoszytko et al 2017].

LCHAD = long-chain hydroxyacyl-CoA dehydrogenase

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency

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