| Variant ID | 19366 |
|---|---|
| Entrez Gene ID | 5432 |
| Gene | POLR2C (GeneCards) |
| Location | hg19 16:57496608-57496608
hg38 16:57462696-57462696 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.57496608 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8872 |
| CADD Raw score (version 1.3) | 0.501459 (Deleterious) |
| FATHMM raw prediction score | 0.19349 (Tolerated) |
| Deleterious probability by DeFine | 0.8591 (Deleterious) |
| Entrez Gene ID | 5432 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POLR2C (GeneCards) |
| Number of variants in POLR2C in this database | 1 (view all the variants) |
| Full name | RNA polymerase II subunit C |
| Band | 16q21 |
| Other IDs | Vega: OTTHUMG00000133464 OMIM: 180663 HGNC: HGNC:9189 Ensembl: ENSG00000102978 |
| Other names | RPB3, RPB31, hRPB33, hsRPB3 |
| Summary | This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |