Variant (rsID / SNP)
rs35152987
rs35152987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBD. Location: chromosome 11, position 5,255,582. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HBDConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:5255582
- Cytoband
- 11p15.4
- HGVS
- NM_000519.4(HBD):c.82G>T (p.Ala28Ser)
- Allele change
- Missense_A28S
Associated conditions / phenotypes
delta Thalassemia|HEMOGLOBIN A(2) YIALOUSA|Fetal hemoglobin quantitative trait locus 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.