Gene entry
CTSC
cathepsin C
- Chromosome
- 11
- Cytoband
- 11q14.2
- Variants (rsID)
- 11
CTSC is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q14.2). Its official name is “cathepsin C”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs3888798Benignsingle nucleotide variantPapillon-Lefèvre syndrome|Haim-Munk syndrome|Periodontitis, aggressive 1|Papillon-Lefèvre syndrome|Haim-Munk syndrome
- rs104894208Conflicting interpretationssingle nucleotide variantHaim-Munk syndrome
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.