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Variant (rsID / SNP)

rs727503791

ACADVL

rs727503791 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADVL. Location: chromosome 17, position 7,124,917. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACADVLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:7124917
Cytoband
17p13.1
HGVS
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
Allele change
Missense_A203T

Associated conditions / phenotypes

Very 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.