Variant (rsID / SNP)

rs72839755

rs72839755 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADSB. Location: chromosome 10, position 124,768,423. Clinical significance in the table: Likely benign.

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Reference-table entries

ACADSBLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:124768423
Cytoband: 10q26.13
HGVS: NM_001609.3(ACADSB):c.-123G>A

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.