Variant (rsID / SNP)

rs137852649

rs137852649 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADSB. Location: chromosome 10, position 124,802,643. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACADSBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:124802643
Cytoband: 10q26.13
HGVS: NM_001609.4(ACADSB):c.763C>T (p.Leu255Phe)
Allele change: Missense_L255F

Associated conditions / phenotypes

Deficiency of 2-methylbutyryl-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.