Variant (rsID / SNP)
rs34502690
rs34502690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,246,887. Clinical significance in the table: Pathogenic.
Reference-table entries
HBBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:5246887
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.383_385del (p.Gln128_Ala129delinsPro)
Associated conditions / phenotypes
Beta-plus-thalassemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.