Gene entry
KBTBD13
kelch repeat and BTB domain containing 13
- Chromosome
- 15
- Cytoband
- 15q22.31
- Variants (rsID)
- 2
KBTBD13 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q22.31). Its official name is “kelch repeat and BTB domain containing 13”. The reference table lists 2 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs12904843Benignsingle nucleotide variantNemaline myopathy 6
- rs200549195Pathogenicsingle nucleotide variantNemaline myopathy 6
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
