Variant (rsID / SNP)

rs1061337

rs1061337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,227,022. 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: 1:76227022
Cytoband: 1p31.1
HGVS: NM_000016.6(ACADM):c.1161A>G (p.Val387=)
Allele change: Synonymous_V351V

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.