Variant (rsID / SNP)
rs397514360
rs397514360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTD. Location: chromosome 3, position 15,683,564. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
BTDPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:15683564
- Cytoband
- 3p25.1
- HGVS
- NM_001370658.1(BTD):c.399G>A (p.Glu133_Val134=)
- Allele change
- Synonymous_E155E
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.