Variant (rsID / SNP)

rs74090726

rs74090726 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,199,277. Clinical significance in the table: Benign.

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Reference-table entries

ACADMBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:76199277
Cytoband: 1p31.1
HGVS: NM_000016.6(ACADM):c.351A>C (p.Thr117=)
Allele change: Synonymous_T81T

Associated conditions / phenotypes

MCAD deficiency, modifier of|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.