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Variant (rsID / SNP)

rs113994169

ACADVL

rs113994169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADVL. Location: chromosome 17, position 7,127,006. 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
17:7127006
Cytoband
17p13.1
HGVS
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
Allele change
Missense_T432M

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.