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Gene entry

SPTA1

spectrin alpha, erythrocytic 1

Chromosome
1
Cytoband
1q23.1
Variants (rsID)
44

SPTA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q23.1). Its official name is “spectrin alpha, erythrocytic 1”. The reference table lists 44 variants (rsID) for this gene.

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Clinically classified variants

23 reference-table entries with clinical significance.

  • rs34214405Benignsingle nucleotide variantHereditary spherocytosis type 3|Pyropoikilocytosis, hereditary|Elliptocytosis 2
  • rs35948326Benignsingle nucleotide variantSpherocytosis, type 3, autosomal recessive|Hereditary spherocytosis type 3|Pyropoikilocytosis, hereditary
  • rs703121Benignsingle nucleotide variantHereditary spherocytosis type 3|Pyropoikilocytosis, hereditary|Elliptocytosis 2
  • rs7547313Benignsingle nucleotide variantHereditary spherocytosis type 3|Pyropoikilocytosis, hereditary|Elliptocytosis 2
  • rs78394850Benignsingle nucleotide variantElliptocytosis 2|Pyropoikilocytosis, hereditary|Hereditary spherocytosis type 3
  • rs857691Benignsingle nucleotide variantHereditary spherocytosis type 3|Elliptocytosis 2|Pyropoikilocytosis, hereditary
  • rs116466258Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 3|Elliptocytosis 2|Pyropoikilocytosis, hereditary
  • rs116959874Conflicting interpretationssingle nucleotide variantElliptocytosis 2|Hereditary spherocytosis type 3|Pyropoikilocytosis, hereditary
  • rs138055271Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 3|Pyropoikilocytosis, hereditary|Elliptocytosis 2
  • rs142775522Conflicting interpretationssingle nucleotide variantPyropoikilocytosis, hereditary|Elliptocytosis 2|Hereditary spherocytosis type 3|Congenital hemolytic anemia
  • rs148912436Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 3|Elliptocytosis 2|Pyropoikilocytosis, hereditary
  • rs200945419Conflicting interpretationssingle nucleotide variantPyropoikilocytosis, hereditary|Elliptocytosis 2|Hereditary spherocytosis type 3
  • rs202217097Conflicting interpretationssingle nucleotide variantPyropoikilocytosis, hereditary|Hereditary spherocytosis type 3|Elliptocytosis 2
  • rs34973695Conflicting interpretationssingle nucleotide variantPyropoikilocytosis, hereditary|Elliptocytosis 2|Hereditary spherocytosis type 3
  • rs35733059Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 3|Pyropoikilocytosis, hereditary|Elliptocytosis 2
  • rs369904982Conflicting interpretationssingle nucleotide variantElliptocytosis 2|Hereditary spherocytosis type 3|Pyropoikilocytosis, hereditary
  • rs3737515Conflicting interpretationssingle nucleotide variantElliptocytosis 2|Pyropoikilocytosis, hereditary|Hereditary spherocytosis type 3|Hemolytic anemia
  • rs41273523Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 3|Elliptocytosis 2|Pyropoikilocytosis, hereditary
  • rs7418956Conflicting interpretationssingle nucleotide variantElliptocytosis 2|Pyropoikilocytosis, hereditary|Hereditary spherocytosis type 3
  • rs121918638Likely pathogenicsingle nucleotide variantElliptocytosis 2
  • rs121918634Pathogenicsingle nucleotide variantElliptocytosis 2
  • rs121918641Pathogenicsingle nucleotide variantElliptocytosis 2
  • rs41273519Uncertain significancesingle nucleotide variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.