Variant (rsID / SNP)
rs28940889
rs28940889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IVD. Location: chromosome 15, position 40,707,653. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
IVDPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:40707653
- Cytoband
- 15q15.1
- HGVS
- NM_002225.5(IVD):c.932C>T (p.Ala311Val)
- Allele change
- Silent
Associated conditions / phenotypes
Isovaleryl-CoA dehydrogenase deficiency|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.