| Variant ID | 32336 |
|---|---|
| Entrez Gene ID | 23236 |
| Gene | PLCB1 (GeneCards) |
| Location | hg19 20:8698392-8698392
hg38 20:8717745-8717745 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000020.10:g.8698392 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 470 |
| Amino acid changes in protein | S > S |
| Position in cDNA | 1410 |
| Changes in cDNA | A > C |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4318 |
| CADD Raw score (version 1.3) | -0.215405 (Deleterious) |
| FATHMM raw prediction score | 0.33677 (Tolerated) |
| Deleterious probability by DeFine | 0.8008 (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 | 25999502.02 (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; |