| Variant ID | 1215 |
|---|---|
| Entrez Gene ID | 10693 |
| Gene | CCT6B (GeneCards) |
| Location | hg19 17:33266705-33266705
hg38 17:34939686-34939686 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000017.10:g.33266705 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 295 |
| Amino acid changes in protein | A > NA |
| Position in cDNA | 885 |
| Changes in cDNA | C > T |
| mRNA accession | NM_001193529.1 |
| mRNA length | 1787 |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4065495 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | 0.9943 |
| CADD Raw score (version 1.3) | 1.376437 (Deleterious) |
| FATHMM raw prediction score | 0.96037 (Tolerated) |
| Deleterious probability by DeFine | 0.7806 (Deleterious) |
| 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 | 28867142.26 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |