| Variant ID | 8991 |
|---|---|
| Entrez Gene ID | 10846 |
| Gene | PDE10A (GeneCards) |
| Location | hg19 6:165875963-165875963
hg38 6:165462475-165462475 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.165875963 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 | -0.8242 |
| CADD Raw score (version 1.3) | -0.08124 (Deleterious) |
| FATHMM raw prediction score | 0.02801 (Tolerated) |
| Deleterious probability by DeFine | 0.153 (Neutral) |
| Entrez Gene ID | 10846 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDE10A (GeneCards) |
| Number of variants in PDE10A in this database | 8 (view all the variants) |
| Full name | phosphodiesterase 10A |
| Band | 6q27 |
| Other IDs | Vega: OTTHUMG00000015986 OMIM: 610652 HGNC: HGNC:8772 Ensembl: ENSG00000112541 |
| Other names | ADSD2, IOLOD, HSPDE10A, PDE10A19, LINC00473 |
| Summary | The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |