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Gene entry

SPTAN1

spectrin alpha, non-erythrocytic 1

Chromosome
9
Cytoband
9q34.11
Variants (rsID)
58

SPTAN1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.11). Its official name is “spectrin alpha, non-erythrocytic 1”. The reference table lists 58 variants (rsID) for this gene.

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Clinically classified variants

46 reference-table entries with clinical significance.

  • rs115428827Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Seizure|Developmental and epileptic encephalopathy, 5
  • rs11543347Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Seizure|Developmental and epileptic encephalopathy, 5
  • rs138275607Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs139049596Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs139799727Benignsingle nucleotide variantSeizure|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs140279996Benignsingle nucleotide variantSeizure|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs141980692Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs142830725Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs147466898Benignsingle nucleotide variantSeizure|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs150902677Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs200543425Benignsingle nucleotide variantChildhood epilepsy with centrotemporal spikes|Seizure|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs2228951Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Seizure|Developmental and epileptic encephalopathy, 5
  • rs3750333Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Seizure|Developmental and epileptic encephalopathy, 5
  • rs749484552Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Seizure|Developmental and epileptic encephalopathy, 5
  • rs138101005Conflicting interpretationssingle nucleotide variantSeizure|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs138985089Conflicting interpretationssingle nucleotide variantSeizure|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs143108250Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 5|Seizure|Early infantile epileptic encephalopathy with suppression bursts
  • rs145038571Conflicting interpretationssingle nucleotide variantSeizure|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs147132904Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Generalized tonic-clonic seizures|Seizure|Developmental and epileptic encephalopathy, 5
  • rs199802986Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 5|Early infantile epileptic encephalopathy with suppression bursts
  • rs34654141Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 5|Early infantile epileptic encephalopathy with suppression bursts
  • rs371350283Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs373491498Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs377253398Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs377437879Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs41275900Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 5|Early infantile epileptic encephalopathy with suppression bursts
  • rs574740801Conflicting interpretationssingle nucleotide variantPeripheral neuropathy|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs587784437Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 5|Early infantile epileptic encephalopathy with suppression bursts
  • rs72758823Conflicting interpretationssingle nucleotide variantSeizure|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs754910706Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs760419507Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 5
  • rs768940761Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs773023641Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs77358650Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Abnormality of brain morphology|Seizure|Developmental and epileptic encephalopathy, 5
  • rs779993051Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs796053298Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs796053315Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5
  • rs141696651Likely benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs150944593Likely benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs200948972Likely benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs372203791Likely benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs745394212Likely benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs771862017Likely benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs886063507Likely benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs587784438PathogenicMicrosatelliteDevelopmental and epileptic encephalopathy, 5|Early infantile epileptic encephalopathy with suppression bursts
  • rs587784440PathogenicMicrosatelliteDevelopmental and epileptic encephalopathy, 5|Seizure|Early infantile epileptic encephalopathy with suppression bursts|Undetermined early-onset epileptic encephalopathy

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.