Gene entry
SPTBN2
spectrin beta, non-erythrocytic 2
- Chromosome
- 11
- Cytoband
- 11q13.2
- Variants (rsID)
- 15
SPTBN2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.2). Its official name is “spectrin beta, non-erythrocytic 2”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs115062978Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia
- rs150607879Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia
- rs199968321Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia
- rs35532855Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia
- rs143155918Conflicting interpretationssingle nucleotide variantSpinocerebellar ataxia type 5
- rs148207416Conflicting interpretationssingle nucleotide variantAutosomal dominant cerebellar ataxia
- rs150159444Conflicting interpretationssingle nucleotide variantSpinocerebellar ataxia type 5|Autosomal recessive spinocerebellar ataxia 14
- rs202247290Likely benignsingle nucleotide variant
- rs200956071Uncertain significancesingle nucleotide variant
- rs201138924Uncertain significancesingle nucleotide variantSpinocerebellar ataxia type 5
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.