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Variant (rsID / SNP)

rs77931234

ACADM

rs77931234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,226,846. 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
1:76226846
Cytoband
1p31.1
HGVS
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
Allele change
Missense_K293E

Associated conditions / phenotypes

Medium-chain acyl-coenzyme A dehydrogenase deficiency|Epileptic spasm|Abnormal circulating lipid concentration|Medium chain dicarboxylic aciduria|See cases

Public references

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