Gene entry
SPTB
spectrin beta, erythrocytic
- Chromosome
- 14
- Cytoband
- 14q23.3
- Variants (rsID)
- 77
SPTB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q23.3). Its official name is “spectrin beta, erythrocytic”. The reference table lists 77 variants (rsID) for this gene.
Clinically classified variants
15 reference-table entries with clinical significance.
- rs2277503Benignsingle nucleotide variantElliptocytosis|Spherocytosis, Dominant
- rs229587Benignsingle nucleotide variantElliptocytosis|Spherocytosis, Dominant|Hereditary spherocytosis type 2
- rs229592Benignsingle nucleotide variantSpherocytosis, Dominant|Elliptocytosis|Hereditary spherocytosis type 2
- rs3742601Benignsingle nucleotide variantElliptocytosis|Spherocytosis, Dominant
- rs3742602Benignsingle nucleotide variantElliptocytosis|Spherocytosis, Dominant
- rs4899145Benignsingle nucleotide variantElliptocytosis|Spherocytosis, Dominant
- rs72724498Benignsingle nucleotide variantElliptocytosis|Spherocytosis, Dominant
- rs138039383Conflicting interpretationssingle nucleotide variant
- rs145675502Conflicting interpretationssingle nucleotide variantElliptocytosis|Spherocytosis, Dominant|Elliptocytosis 3
- rs147235045Conflicting interpretationssingle nucleotide variantElliptocytosis|Spherocytosis, Dominant
- rs75000411Conflicting interpretationssingle nucleotide variantSpherocytosis, Dominant|Elliptocytosis
- rs200386310Likely pathogenicsingle nucleotide variantHereditary spherocytosis type 2
- rs121918645Pathogenicsingle nucleotide variantElliptocytosis 3
- rs141226650Uncertain significancesingle nucleotide variant
- rs189656371Uncertain significancesingle nucleotide variantElliptocytosis|Spherocytosis, Dominant
Other listed variants
- rs2828
- rs4049
- rs92070
- rs94788
- rs229617
- rs230702
- rs230722
- rs444583
- rs762070
- rs1467573
- rs1553164
- rs1570295
- rs1741464
- rs1741466
- rs1741490
- rs1875053
- rs1951493
- rs2285003
- rs2285004
- rs4899146
- rs10129595
- rs11623597
- rs11851199
- rs12587537
- rs17180630
- rs17826105
- rs17826231
- rs36093510
- rs56327757
- rs72625636
- rs72724482
- rs73279816
- rs74058210
- rs75223913
- rs75570566
- rs75629165
- rs77587730
- rs77996591
- rs78283197
- rs78800175
- rs79118788
- rs80024584
- rs116677071
- rs118064147
- rs118108317
- rs139871838
- rs143493156
- rs144521331
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.