Gene entry
NR1H4
nuclear receptor subfamily 1 group H member 4
- Chromosome
- 12
- Cytoband
- 12q23.1
- Variants (rsID)
- 24
NR1H4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q23.1). Its official name is “nuclear receptor subfamily 1 group H member 4”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs56163822Benignsingle nucleotide variant
- rs61755050Likely benignsingle nucleotide variant
- rs113090017Pathogenicsingle nucleotide variantProgressive familial intrahepatic cholestasis type 1|Cholestasis, progressive familial intrahepatic, 5
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.