Variant (rsID / SNP)
rs11549407
rs11549407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,004. Clinical significance in the table: Pathogenic.
Reference-table entries
HBBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:5248004
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
- Allele change
- Missense_Q40E
Associated conditions / phenotypes
Beta zero thalassemia|beta Thalassemia|9 conditions|Hb SS disease|alpha Thalassemia|Heinz body anemia|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.