Variant (rsID / SNP)

rs139145143

rs139145143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACAD9. Location: chromosome 3, position 128,627,862. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ACAD9Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:128627862
Cytoband: 3q21.3
HGVS: NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
Allele change: Silent

Associated conditions / phenotypes

Acyl-CoA dehydrogenase 9 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.