Variant (rsID / SNP)
rs33974936
rs33974936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,008. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
HBBPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:5248008
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.114G>A (p.Trp38Ter)
- Allele change
- Missense_W38C
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.