Variant (rsID / SNP)
rs80356820
rs80356820 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,247,987. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
HBBPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:5247987
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.135del (p.Phe46fs)
Associated conditions / phenotypes
Beta zero thalassemia|beta Thalassemia|Dominant beta-thalassemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.