| Variant ID | 19818 |
|---|---|
| Entrez Gene ID | 10693 |
| Gene | CCT6B (GeneCards) |
| Location | hg19 17:33287687-33287687
hg38 17:34960668-34960668 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000017.10:g.33287687 A>C (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1959 |
| CADD Raw score (version 1.3) | -0.018485 (Deleterious) |
| FATHMM raw prediction score | 0.27491 (Tolerated) |
| Deleterious probability by DeFine | 0.3395 (Neutral) |
| Entrez Gene ID | 10693 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCT6B (GeneCards) |
| Number of variants in CCT6B in this database | 5 (view all the variants) |
| Full name | chaperonin containing TCP1 subunit 6B |
| Band | 17q12 |
| Other IDs | Vega: OTTHUMG00000179770 OMIM: 610730 HGNC: HGNC:1621 Ensembl: ENSG00000132141 |
| Other names | Cctz2, CCTZ-2, TSA303, CCT-zeta-2, TCP-1-zeta-2 |
| Summary | This gene encodes a molecular chaperone that is a member of the chaperonin-containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] |
| Individual ID | 29217584.04 (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; |