Variant (rsID / SNP)
rs334
rs334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,232. Clinical significance in the table: other.
Reference-table entries
HBBOther
- Clinical significance (as recorded)
- other
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:5248232
- Cytoband
- 11p15.4
- HGVS
- NM_000518.4(HBB):c.20A>C (p.Glu7Ala)
- Allele change
- Missense_E7A
Associated conditions / phenotypes
HEMOGLOBIN G (MAKASSAR)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.