Variant (rsID / SNP)

rs749491616

rs749491616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADS. Location: chromosome 12, position 121,175,167. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACADSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:121175167
Cytoband: 12q24.31
HGVS: NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter)
Allele change: Nonsense_Y123X

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.