Variant (rsID / SNP)

rs796051983

rs796051983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IVD. Location: chromosome 15, position 40,707,611. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

IVDLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:40707611
Cytoband: 15q15.1
HGVS: NM_002225.5(IVD):c.890C>T (p.Ala297Val)
Allele change: Silent

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.