Variant (rsID / SNP)
rs786205213
rs786205213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A3. Location: chromosome 2, position 228,566,960. Clinical significance in the table: Pathogenic.
Reference-table entries
SLC19A3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 2:228566960
- Cytoband
- 2q36.3
- HGVS
- NM_025243.4(SLC19A3):c.74dup (p.Ser26fs)
Associated conditions / phenotypes
Biotin-responsive basal ganglia disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.