| Variant ID | 11443 |
|---|---|
| Entrez Gene ID | 5137 |
| Gene | PDE1C (GeneCards) |
| Location | hg19 7:32042899-32042899
hg38 7:32003287-32003287 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.32042899 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1507 |
| CADD Raw score (version 1.3) | 0.188716 (Deleterious) |
| FATHMM raw prediction score | 0.16106 (Tolerated) |
| Deleterious probability by DeFine | 0.5677 (Deleterious) |
| Entrez Gene ID | 5137 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDE1C (GeneCards) |
| Number of variants in PDE1C in this database | 11 (view all the variants) |
| Full name | phosphodiesterase 1C |
| Band | 7p14.3 |
| Other IDs | Vega: OTTHUMG00000023836 OMIM: 602987 HGNC: HGNC:8776 Ensembl: ENSG00000154678 |
| Other names | Hcam3, hCam-3, cam-PDE1C |
| Summary | This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016] |
| Individual ID | 29217584.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |