Variant (rsID / SNP)
rs397515346
rs397515346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGD. Location: chromosome 3, position 120,366,735. Clinical significance in the table: Pathogenic.
Reference-table entries
HGDPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 3:120366735
- Cytoband
- 3q13.33
- HGVS
- NM_000187.4(HGD):c.457dup (p.Asp153fs)
Associated conditions / phenotypes
Alkaptonuria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.