Variant (rsID / SNP)

rs149753643

rs149753643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACAD9. Location: chromosome 3, position 128,625,051. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACAD9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:128625051
Cytoband: 3q21.3
HGVS: NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)
Allele change: Silent

Associated conditions / phenotypes

Acyl-CoA dehydrogenase 9 deficiency|Mitochondrial complex I 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.