Variant (rsID / SNP)

rs747985669

rs747985669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,416,520. 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: Deletion
Chromosome / position: 2:26416520
Cytoband: 2p23.3
HGVS: NM_000182.5(HADHA):c.1811del (p.Gly604fs)

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.