Gene entry
EBP
EBP cholestenol delta-isomerase
- Chromosome
- X
- Cytoband
- Xp11.23
- Variants (rsID)
- 7
EBP is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.23). Its official name is “EBP cholestenol delta-isomerase”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs104894792Pathogenicsingle nucleotide variantChondrodysplasia punctata 2 X-linked dominant
- rs104894793Pathogenicsingle nucleotide variantChondrodysplasia punctata 2 X-linked dominant
- rs104894794Pathogenicsingle nucleotide variantChondrodysplasia punctata 2 X-linked dominant
- rs104894799Pathogenicsingle nucleotide variantChondrodysplasia punctata 2 X-linked dominant
- rs104894800Pathogenicsingle nucleotide variantChondrodysplasia punctata 2 X-linked dominant|Connective tissue disorder
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.