Variant (rsID / SNP)

rs28940874

rs28940874 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADS. Location: chromosome 12, position 121,175,742. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACADSConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:121175742
Cytoband: 12q24.31
HGVS: NM_000017.4(ACADS):c.575C>T (p.Ala192Val)
Allele change: Missense_A192V

Associated conditions / phenotypes

Deficiency of butyryl-CoA dehydrogenase

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.