| Variant ID | 10128 |
|---|---|
| Entrez Gene ID | 5071 |
| Gene | PARK2 (GeneCards) |
| Location | hg19 6:161803678-161803678
hg38 6:161382646-161382646 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.161803678 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1818 |
| CADD Raw score (version 1.3) | 0.044014 (Deleterious) |
| FATHMM raw prediction score | 0.27529 (Tolerated) |
| Deleterious probability by DeFine | 0.6758 (Deleterious) |
| Entrez Gene ID | 5071 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PARK2 (GeneCards) |
| Number of variants in PRKN in this database | 24 (view all the variants) |
| Full name | parkin RBR E3 ubiquitin protein ligase |
| Band | 6q26 |
| Other IDs | Vega: OTTHUMG00000015970 OMIM: 602544 HGNC: HGNC:8607 Ensembl: ENSG00000185345 |
| Other names | PDJ, AR-JP, LPRS2, PARK2 |
| Summary | The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |