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Variant (rsID / SNP)

rs57443665

ACADS

rs57443665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADS. Location: chromosome 12, position 121,175,696. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ACADSPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:121175696
Cytoband
12q24.31
HGVS
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
Allele change
Missense_W177R

Associated conditions / phenotypes

Deficiency of butyryl-CoA dehydrogenase|See cases

Public references

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