| Entrez Gene ID | 23007 |
|---|---|
| Official Gene Symbol | PLCH1 (GeneCards) |
| Full name | phospholipase C eta 1 |
| Location | 3q25.31 |
| Other ids | Vega : OTTHUMG00000158477 MIM : 612835 HGNC : HGNC:29185 Ensembl : ENSG00000114805 |
| Other names | PLCL3 |
| Summary | PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 5031 | 23007 | PLCH1 | 3 | 155328817 | 155328817 | Asymptomatic | HiSeq X Ten |
| 5039 | 23007 | PLCH1 | 3 | 155346885 | 155346885 | Asymptomatic | HiSeq X Ten |
| 5188 | 23007 | PLCH1 | 3 | 155299949 | 155299949 | HiSeq X Ten | |
| 5976 | 23007 | PLCH1 | 3 | 155344089 | 155344089 | Xeroderma Pigmentosum | HiSeq X Ten |
| 25152 | 23007 | PLCH1 | 3 | 155262345 | 155262345 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29696 | 23007 | PLCH1 | 3 | 155208647 | 155208647 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |