| Variant ID | 17828 |
|---|---|
| Entrez Gene ID | 729240 |
| Gene | PRR20C (GeneCards) |
| Location | hg19 13:58114981-58114981
hg38 13:57540847-57540847 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.58114981 C>T (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 | -0.4731 |
| CADD Raw score (version 1.3) | -0.220985 (Deleterious) |
| FATHMM raw prediction score | 0.04827 (Tolerated) |
| Deleterious probability by DeFine | 0.0859 (Neutral) |
| Entrez Gene ID | 729240 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRR20C (GeneCards) |
| Number of variants in PRR20C in this database | 4 (view all the variants) |
| Full name | proline rich 20C |
| Band | 13q21.1 |
| Other IDs | Vega: OTTHUMG00000184244 HGNC: HGNC:37221 Ensembl: ENSG00000229665 |
| Other names | None |
| Summary | This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |