Gene entry
CFAP53
cilia and flagella associated protein 53
- Chromosome
- 18
- Cytoband
- 18q21.1
- Variants (rsID)
- 10
CFAP53 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q21.1). Its official name is “cilia and flagella associated protein 53”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs113161381Benignsingle nucleotide variantHeterotaxy, visceral, 6, autosomal
- rs12607385Benignsingle nucleotide variantHeterotaxy, visceral, 6, autosomal
- rs138848935Benignsingle nucleotide variantHeterotaxy, visceral, 6, autosomal
- rs76722120Benignsingle nucleotide variantHeterotaxy, visceral, 6, autosomal
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.