Variant (rsID / SNP)

rs121434277

rs121434277 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,200,535. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACADMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:76200535
Cytoband: 1p31.1
HGVS: NM_000016.6(ACADM):c.447G>A (p.Met149Ile)
Allele change: Missense_M113I

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.