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Variant (rsID / SNP)

rs146511220

ACADL

rs146511220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADL. Location: chromosome 2, position 211,070,402. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACADLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:211070402
Cytoband
2q34
HGVS
NM_001608.4(ACADL):c.722G>C (p.Gly241Ala)
Allele change
Missense_G241A

Associated conditions / phenotypes

Long chain acyl-CoA dehydrogenase deficiency

Public references

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