Variant (rsID / SNP)

rs398123682

rs398123682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IVD. Location: chromosome 15, position 40,702,937. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

IVDPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 15:40702937
Cytoband: 15q15.1
HGVS: NM_002225.5(IVD):c.397_398del (p.Cys133fs)

Associated conditions / phenotypes

Isovaleryl-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.