Variant (rsID / SNP)
rs886041559
rs886041559 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTD. Location: chromosome 3, position 15,686,772. Clinical significance in the table: Pathogenic.
Reference-table entries
BTDPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 3:15686772
- Cytoband
- 3p25.1
- HGVS
- NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
Associated conditions / phenotypes
Biotinidase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.