Gene entry
TUBA1A
tubulin alpha 1a
- Chromosome
- 12
- Cytoband
- 12q13.12
- Variants (rsID)
- 6
TUBA1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q13.12). Its official name is “tubulin alpha 1a”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs1057517843Pathogenicsingle nucleotide variantLissencephaly due to TUBA1A mutation|Tubulinopathies
- rs137853043Pathogenicsingle nucleotide variantLissencephaly due to TUBA1A mutation|Inborn genetic diseases|Tubulinopathies|Lissencephaly
- rs137853044Pathogenicsingle nucleotide variantLissencephaly due to TUBA1A mutation|Tubulinopathies|Lissencephaly|Tubulinopathy-associated dysgyria
- rs137853049Pathogenicsingle nucleotide variantLissencephaly due to TUBA1A mutation|Inborn genetic diseases|Tubulinopathies
- rs137853050Pathogenicsingle nucleotide variantLissencephaly due to TUBA1A mutation|Tubulinopathies|Lissencephaly
- rs587784483Pathogenicsingle nucleotide variantLissencephaly due to TUBA1A mutation|Autosomal recessive limb-girdle muscular dystrophy type 2D|Tubulinopathies|Lissencephaly
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.