| Variant ID | 10824 |
|---|---|
| Entrez Gene ID | 27445 |
| Gene | PCLO (GeneCards) |
| Location | hg19 7:82473800-82473800
hg38 7:82844484-82844484 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.82473800 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 | -0.2456 |
| CADD Raw score (version 1.3) | 0.545286 (Deleterious) |
| FATHMM raw prediction score | 0.0648 (Tolerated) |
| Deleterious probability by DeFine | 0.4898 (Neutral) |
| Entrez Gene ID | 27445 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCLO (GeneCards) |
| Number of variants in PCLO in this database | 8 (view all the variants) |
| Full name | piccolo presynaptic cytomatrix protein |
| Band | 7q21.11 |
| Other IDs | Vega: OTTHUMG00000154853 OMIM: 604918 HGNC: HGNC:13406 Ensembl: ENSG00000186472 |
| Other names | ACZ, PCH3 |
| Summary | The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
| Individual ID | 29217584.09 (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; |