Gene entry
OPHN1
oligophrenin 1
- Chromosome
- X
- Cytoband
- Xq12
- Variants (rsID)
- 60
OPHN1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq12). Its official name is “oligophrenin 1”. The reference table lists 60 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs3788859Benignsingle nucleotide variant
- rs41303733Benignsingle nucleotide variantHistory of neurodevelopmental disorder
- rs143713841Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|See cases
- rs368803937Conflicting interpretationssingle nucleotide variant
Other listed variants
- rs492933
- rs1327484
- rs1410127
- rs2182721
- rs2225124
- rs4129297
- rs5918806
- rs5918809
- rs5919522
- rs5919529
- rs5919541
- rs5919549
- rs5919551
- rs5919554
- rs5919559
- rs5919560
- rs5964671
- rs5965496
- rs5965510
- rs5965529
- rs5965567
- rs6525223
- rs6525226
- rs6625312
- rs7050085
- rs7053742
- rs7060140
- rs7063913
- rs7065212
- rs7357990
- rs7880614
- rs7881511
- rs7887862
- rs7888212
- rs7891230
- rs11094074
- rs12847332
- rs12854385
- rs16990499
- rs16990564
- rs68188944
- rs73212868
- rs73212878
- rs73212882
- rs138532916
- rs138667349
- rs139677404
- rs139961952
- rs141868437
- rs142363350
- rs142783437
- rs146214512
- rs146250304
- rs146606576
- rs182736568
- rs189151873
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
