Gene entry
ITPR1
inositol 1,4,5-trisphosphate receptor type 1
- Chromosome
- 3
- Cytoband
- 3p26.1
- Variants (rsID)
- 154
ITPR1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p26.1). Its official name is “inositol 1,4,5-trisphosphate receptor type 1”. The reference table lists 154 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs200335594Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Intellectual disability|See cases
- rs35789999Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia
- rs41315884Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia
- rs61757110Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia
- rs6762644Benignsingle nucleotide variant
- rs41289628Conflicting interpretationssingle nucleotide variantAutosomal dominant cerebellar ataxia
- rs61757111Conflicting interpretationssingle nucleotide variantAutosomal dominant cerebellar ataxia
Other listed variants
- rs304003
- rs304010
- rs304051
- rs304052
- rs304075
- rs874131
- rs923353
- rs931388
- rs1008825
- rs1018109
- rs1038639
- rs1051559
- rs1473298
- rs1546228
- rs1866999
- rs1873020
- rs1873849
- rs2029665
- rs2101694
- rs2101696
- rs2279749
- rs2291860
- rs2291861
- rs2306870
- rs2322734
- rs2322736
- rs2322806
- rs2639801
- rs2686607
- rs2686609
- rs2686620
- rs2686621
- rs3792490
- rs3792491
- rs3792492
- rs3792494
- rs3792500
- rs3792514
- rs3792515
- rs3804984
- rs3804993
- rs3805002
- rs3805005
- rs3805009
- rs3805016
- rs3805018
- rs3805035
- rs3816252
- rs3828434
- rs3828439
- rs4074087
- rs4684425
- rs4684436
- rs4684438
- rs4684445
- rs4685771
- rs4685815
- rs6442888
- rs6442902
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.