Gene entry
POR
cytochrome p450 oxidoreductase
- Chromosome
- 7
- Cytoband
- 7q11.23
- Variants (rsID)
- 56
POR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q11.23). Its official name is “cytochrome p450 oxidoreductase”. The reference table lists 56 variants (rsID) for this gene.
Clinically classified variants
24 reference-table entries with clinical significance.
- rs10262966Benignsingle nucleotide variantAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis|Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- rs1057868Benignsingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- rs1057870Benignsingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- rs1135612Benignsingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- rs17685Benignsingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- rs2228104Benignsingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- rs3823884Benignsingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- rs145782750Conflicting interpretationssingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- rs17853284Conflicting interpretationssingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- rs41299490Conflicting interpretationssingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- rs41299496Conflicting interpretationssingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- rs373737641Likely benignsingle nucleotide variant
- rs28931607Likely pathogenicsingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Congenital adrenal hyperplasia
- rs121912974Pathogenicsingle nucleotide variantAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis|Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|POR-related disorder
- rs121912975Pathogenicsingle nucleotide variantAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- rs121912976Pathogenicsingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- rs28931608Pathogenicsingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- rs72552772Pathogenicsingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- rs786205099Pathogenicsingle nucleotide variantAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- rs786205875PathogenicDuplicationAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- rs786205878PathogenicDuplicationAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- rs148175064Uncertain significancesingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- rs201513102Uncertain significancesingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- rs56256515Uncertain significancesingle nucleotide variantCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Other listed variants
- rs239960
- rs1362234
- rs1966363
- rs2868177
- rs2868180
- rs3898649
- rs4728533
- rs6949454
- rs6953065
- rs7804806
- rs10239977
- rs11540674
- rs12537277
- rs12537282
- rs17148944
- rs41299478
- rs41299514
- rs41299517
- rs41301394
- rs41302345
- rs56355228
- rs62475272
- rs78906654
- rs116971685
- rs199634961
- rs200097755
- rs549141575
- rs559159968
- rs567904247
- rs781890088
- rs781946801
- rs782128221
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.