Variant (rsID / SNP)

rs150283105

rs150283105 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACAD9. Location: chromosome 3, position 128,628,253. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ACAD9Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:128628253
Cytoband: 3q21.3
HGVS: NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
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.