Variant (rsID / SNP)
rs34563000
rs34563000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,251. Clinical significance in the table: Pathogenic.
Reference-table entries
HBBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:5248251
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.1A>G (p.Met1Val)
- Allele change
- Missense_M1V
Associated conditions / phenotypes
Hemoglobinopathy|beta Thalassemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.