Variant (rsID / SNP)
rs35424040
rs35424040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,170. 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
- 11:5248170
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.82G>T (p.Ala28Ser)
- Allele change
- Missense_A28P
Associated conditions / phenotypes
HEMOGLOBIN KNOSSOS|Beta-plus-thalassemia|Beta-Knossos-thalassemia|beta Thalassemia|Hemoglobinopathy|Hb SS disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.