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Variant (rsID / SNP)

rs200754053

ACADM

rs200754053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,205,722. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACADMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:76205722
Cytoband
1p31.1
HGVS
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)
Allele change
Missense_A140S

Associated conditions / phenotypes

Medium-chain acyl-coenzyme A dehydrogenase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.