Variant (rsID / SNP)

rs1345480688

rs1345480688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADSB. Location: chromosome 10, position 124,797,366. 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: 10:124797366
Cytoband: 10q26.13
HGVS: NM_001609.4(ACADSB):c.303+3A>G
Allele change: Silent

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.