Variant (rsID / SNP)

rs148207467

rs148207467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,226,906. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ACADMPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:76226906
Cytoband: 1p31.1
HGVS: NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
Allele change: Nonsense_R313X

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.