Variant (rsID / SNP)
rs33950507
rs33950507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,173. Clinical significance in the table: Pathogenic.
Reference-table entries
HBBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:5248173
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
- Allele change
- Missense_E27K
Associated conditions / phenotypes
Hemoglobin E|Beta-plus-thalassemia|Hemoglobin E/beta thalassemia disease|Malaria, resistance to|Hb SS disease|beta Thalassemia|Hemoglobin E disease|Anemia|9 conditions|Beta-thalassemia HBB/LCRB
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.