Variant (rsID / SNP)

rs118204014

rs118204014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADVL. Location: chromosome 17, position 7,128,285. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ACADVLPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:7128285
Cytoband: 17p13.1
HGVS: NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
Allele change: Missense_R636W

Associated conditions / phenotypes

Very long chain acyl-CoA dehydrogenase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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