Variant (rsID / SNP)

rs113994167

rs113994167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADVL. Location: chromosome 17, position 7,125,591. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACADVLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:7125591
Cytoband: 17p13.1
HGVS: NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
Allele change: Missense_V306A

Associated conditions / phenotypes

Very long chain acyl-CoA dehydrogenase deficiency|Very long chain fatty acid accumulation

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.