| Variant ID | 19761 |
|---|---|
| Entrez Gene ID | 5336 |
| Gene | PLCG2 (GeneCards) |
| Location | hg19 16:81859447-81859447
hg38 16:81825842-81825842 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.81859447 G>A (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3678 |
| CADD Raw score (version 1.3) | -0.248591 (Deleterious) |
| FATHMM raw prediction score | 0.14716 (Tolerated) |
| Deleterious probability by DeFine | 0.2141 (Neutral) |
| Entrez Gene ID | 5336 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLCG2 (GeneCards) |
| Number of variants in PLCG2 in this database | 2 (view all the variants) |
| Full name | phospholipase C gamma 2 |
| Band | 16q23.3 |
| Other IDs | Vega: OTTHUMG00000176532 OMIM: 600220 HGNC: HGNC:9066 Ensembl: ENSG00000197943 |
| Other names | FCAS3, APLAID, PLC-IV, PLC-gamma-2 |
| Summary | The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217584.23 (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; |