Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs747268471

ACADM

rs747268471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADM. Location: chromosome 1, position 76,216,214. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ACADMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:76216214
Cytoband
1p31.1
HGVS
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
Allele change
Missense_G274R

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.