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Variant (rsID / SNP)

rs138098371

ACADM

rs138098371 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,226,855. 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
1:76226855
Cytoband
1p31.1
HGVS
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
Allele change
Synonymous_L296L

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.