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Variant (rsID / SNP)

rs188094280

ACADSB

rs188094280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADSB. Location: chromosome 10, position 124,812,607. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACADSBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:124812607
Cytoband
10q26.13
HGVS
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)
Allele change
Missense_E387K

Associated conditions / phenotypes

Deficiency of 2-methylbutyryl-CoA dehydrogenase|Seizure

Public references

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