Gene entry
KDM6A
lysine demethylase 6A
- Chromosome
- X
- Cytoband
- Xp11.3
- Variants (rsID)
- 17
KDM6A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.3). Its official name is “lysine demethylase 6A”. The reference table lists 17 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs141353229Benignsingle nucleotide variantKabuki syndrome 2
- rs2230018Benignsingle nucleotide variantKabuki syndrome 2
- rs34922269Benignsingle nucleotide variantKabuki syndrome 2
- rs397514628Pathogenicsingle nucleotide variantKabuki syndrome 2
- rs398122929Pathogenicsingle nucleotide variantKabuki syndrome 2
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.