Variant (rsID / SNP)

rs727503788

rs727503788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADVL. Location: chromosome 17, position 7,123,443. 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: 17:7123443
Cytoband: 17p13.1
HGVS: NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
Allele change: Nonsense_S45X

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.