| Variant ID | 5666 |
|---|---|
| Entrez Gene ID | 3708 |
| Gene | ITPR1 (GeneCards) |
| Location | hg19 3:4575479-4575479
hg38 3:4533795-4533795 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.4575479 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | -0.5096 |
| CADD Raw score (version 1.3) | -0.18611 (Deleterious) |
| FATHMM raw prediction score | 0.13201 (Tolerated) |
| Deleterious probability by DeFine | 0.7138 (Deleterious) |
| Entrez Gene ID | 3708 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITPR1 (GeneCards) |
| Number of variants in ITPR1 in this database | 5 (view all the variants) |
| Full name | inositol 1,4,5-trisphosphate receptor type 1 |
| Band | 3p26.1 |
| Other IDs | Vega: OTTHUMG00000154996 OMIM: 147265 HGNC: HGNC:6180 Ensembl: ENSG00000150995 |
| Other names | ACV, CLA4, IP3R, IP3R1, SCA15, SCA16, SCA29, INSP3R1, PPP1R94 |
| Summary | This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |