Gene entry
CHAMP1
chromosome alignment maintaining phosphoprotein 1
- Chromosome
- 13
- Cytoband
- 13q34
- Variants (rsID)
- 10
CHAMP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q34). Its official name is “chromosome alignment maintaining phosphoprotein 1”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs200070245Pathogenicsingle nucleotide variantintellectual disability with severe speech impairment|Intellectual disability, autosomal dominant 40
- rs797044961PathogenicDeletionintellectual disability with severe speech impairment|Intellectual disability, autosomal dominant 40
- rs797044963PathogenicDeletionintellectual disability with severe speech impairment|Intellectual disability, autosomal dominant 40
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.