| Variant ID | 29668 |
|---|---|
| Entrez Gene ID | 9236 |
| Gene | CCPG1 (GeneCards) |
| Location | hg19 15:55651891-55651891
hg38 15:55359693-55359693 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000015.9:g.55651891 G>A (Genome Assembly: hg19) |
| 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.125 |
| CADD Raw score (version 1.3) | 12.250923 (Deleterious) |
| FATHMM raw prediction score | 0.98937 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.9 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.483 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.35 |
| Deleterious probability by DeFine | 0.9587 (Deleterious) |
| Entrez Gene ID | 9236 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCPG1 (GeneCards) |
| Number of variants in CCPG1 in this database | 1 (view all the variants) |
| Full name | cell cycle progression 1 |
| Band | 15q21.3 |
| Other IDs | Vega: OTTHUMG00000172678 OMIM: 611326 HGNC: HGNC:24227 Ensembl: ENSG00000260916 |
| Other names | CPR8 |
| Summary | None |
| Individual ID | 28714951.344 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |