Variant (rsID / SNP)

rs2229249

rs2229249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,211,569. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ACADMBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:76211569
Cytoband: 1p31.1
HGVS: NM_000016.6(ACADM):c.678A>G (p.Ala226=)
Allele change: Synonymous_A190A

Associated conditions / phenotypes

Medium-chain acyl-coenzyme A dehydrogenase deficiency

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.