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Variant (rsID / SNP)

rs138834083

ACADVL

rs138834083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADVL. Location: chromosome 17, position 7,127,135. 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
17:7127135
Cytoband
17p13.1
HGVS
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
Allele change
Missense_A448T

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.