Variant (rsID / SNP)
rs35662066
rs35662066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,201. Clinical significance in the table: Pathogenic.
Reference-table entries
HBBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:5248201
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.51del (p.Lys18fs)
Associated conditions / phenotypes
Beta zero thalassemia|beta Thalassemia|Hemoglobinopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.