| Variant ID | 5976 |
|---|---|
| Entrez Gene ID | 23007 |
| Gene | PLCH1 (GeneCards) |
| Location | hg19 3:155344089-155344089
hg38 3:155626300-155626300 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.155344089 T>C (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 |
|---|---|
| EIGEN score | -0.2081 |
| CADD Raw score (version 1.3) | -0.111579 (Deleterious) |
| FATHMM raw prediction score | 0.08403 (Tolerated) |
| Deleterious probability by DeFine | 0.4227 (Neutral) |
| Entrez Gene ID | 23007 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLCH1 (GeneCards) |
| Number of variants in PLCH1 in this database | 6 (view all the variants) |
| Full name | phospholipase C eta 1 |
| Band | 3q25.31 |
| Other IDs | Vega: OTTHUMG00000158477 OMIM: 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] |
| Individual ID | 29217584.24 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |