| Variant ID | 21478 |
|---|---|
| Entrez Gene ID | 23236 |
| Gene | PLCB1 (GeneCards) |
| Location | hg19 20:8233661-8233661
hg38 20:8253015-8253015 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.8233661 G>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2151 |
| CADD Raw score (version 1.3) | 0.069619 (Deleterious) |
| FATHMM raw prediction score | 0.07766 (Tolerated) |
| Deleterious probability by DeFine | 0.467 (Neutral) |
| Entrez Gene ID | 23236 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLCB1 (GeneCards) |
| Number of variants in PLCB1 in this database | 66 (view all the variants) |
| Full name | phospholipase C beta 1 |
| Band | 20p12.3 |
| Other IDs | Vega: OTTHUMG00000031849 OMIM: 607120 HGNC: HGNC:15917 Ensembl: ENSG00000182621 |
| Other names | PLC-I, EIEE12, PI-PLC, PLC154, PLCB1A, PLCB1B, PLC-154, PLC-beta-1 |
| Summary | The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (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; |