| Variant ID | 16945 |
|---|---|
| Entrez Gene ID | 5153 |
| Gene | PDE1B (GeneCards) |
| Location | hg19 12:54951562-54951562
hg38 12:54557778-54557778 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.54951562 G>A (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4657 |
| CADD Raw score (version 1.3) | 0.384109 (Deleterious) |
| FATHMM raw prediction score | 0.21207 (Tolerated) |
| Deleterious probability by DeFine | 0.7754 (Deleterious) |
| Entrez Gene ID | 5153 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDE1B (GeneCards) |
| Number of variants in PDE1B in this database | 3 (view all the variants) |
| Full name | phosphodiesterase 1B |
| Band | 12q13.2 |
| Other IDs | Vega: OTTHUMG00000169844 OMIM: 171891 HGNC: HGNC:8775 Ensembl: ENSG00000123360 |
| Other names | PDE1B1, PDES1B, HEL-S-79p |
| Summary | The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] |
| 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; |