| Variant ID | 31004 |
|---|---|
| Entrez Gene ID | 23236 |
| Gene | PLCB1 (GeneCards) |
| Location | hg19 20:8717784-8717784
hg38 20:8737137-8737137 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000020.10:g.8717784 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 718 |
| Amino acid changes in protein | S > F |
| Position in cDNA | 2153 |
| Changes in cDNA | C > T |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3549427 |
| Variant occurences in COSMIC | 2(skin) |
| EIGEN score | 0.7856 |
| CADD Raw score (version 1.3) | 6.603487 (Deleterious) |
| FATHMM raw prediction score | 0.9735 (Tolerated) |
| SIFT score | 0.026 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.71 (Tolerated) |
| PROVEAN score | -3.38 (Deleterious) |
| MetaSVM score | -0.122 (Tolerated) |
| MetaLR score | 0.455 (Tolerated) |
| MCAP score | 0.089 (Deleterious) |
| FitCons score | 0.745 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.43 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.601 |
| Deleterious probability by iFish2 | 0.9627 (Deleterious) |
| Deleterious probability by DeFine | 0.9213 (Deleterious) |
| 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 | 25999502.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |