| Variant ID | 17966 |
|---|---|
| Entrez Gene ID | 51082 |
| Gene | POLR1D (GeneCards) |
| Location | hg19 13:28267113-28267113
hg38 13:27692976-27692976 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.28267113 A>G (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.781 |
| CADD Raw score (version 1.3) | -0.700225 (Deleterious) |
| FATHMM raw prediction score | 0.03876 (Tolerated) |
| Deleterious probability by DeFine | 0.2041 (Neutral) |
| Entrez Gene ID | 51082 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POLR1D (GeneCards) |
| Number of variants in POLR1D in this database | 3 (view all the variants) |
| Full name | RNA polymerase I and III subunit D |
| Band | 13q12.2 |
| Other IDs | Vega: OTTHUMG00000016635 OMIM: 613715 HGNC: HGNC:20422 Ensembl: ENSG00000186184 |
| Other names | AC19, RPA9, TCS2, RPA16, RPAC2, RPC16, POLR1C, RPO1-3 |
| Summary | The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] |
| 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; |