Gene entry
NR0B1
nuclear receptor subfamily 0 group B member 1
- Chromosome
- X
- Cytoband
- Xp21.2
- Variants (rsID)
- 20
NR0B1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp21.2). Its official name is “nuclear receptor subfamily 0 group B member 1”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs386134262Likely pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs104894887Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs104894889Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs104894890Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs104894891Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs104894892Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs104894894Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs104894895Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs104894899Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs104894907Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs28935481Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs386134263Pathogenicsingle nucleotide variantCongenital adrenal hypoplasia, X-linked
- rs132630327Uncertain significancesingle nucleotide variantMineralocorticoid deficiency, isolated
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.