Gene entry
TUBB3
tubulin beta 3 class III
- Chromosome
- 16
- Cytoband
- 16q24.3
- Variants (rsID)
- 10
TUBB3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q24.3). Its official name is “tubulin beta 3 class III”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs142238093Conflicting interpretationssingle nucleotide variant
- rs576180572Conflicting interpretationssingle nucleotide variant
- rs587784505Conflicting interpretationssingle nucleotide variantComplex cortical dysplasia with other brain malformations 1|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
- rs267607162Pathogenicsingle nucleotide variantFibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
- rs267607163Pathogenicsingle nucleotide variantFibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
- rs747480526Pathogenicsingle nucleotide variantComplex cortical dysplasia with other brain malformations 1|Inborn genetic diseases
- rs864321715Pathogenicsingle nucleotide variantFibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
- rs864321717Pathogenicsingle nucleotide variantFibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|Inborn genetic diseases|Complex cortical dysplasia with other brain malformations 1
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.