Gene entry
CTCF
CCCTC-binding factor
- Chromosome
- 16
- Cytoband
- 16q22.1
- Variants (rsID)
- 8
CTCF is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q22.1). Its official name is “CCCTC-binding factor”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs145727304Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
- rs879255516Pathogenicsingle nucleotide variantIntellectual disability-feeding difficulties-developmental delay-microcephaly syndrome|CTCF-related syndromic intellectual disability
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.