| Variant ID | 29641 |
|---|---|
| Entrez Gene ID | 388324 |
| Gene | INCA1 (GeneCards) |
| Location | hg19 17:4892121-4892121
hg38 17:4988826-4988826 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.4892121 T>C (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.3948 |
| CADD Raw score (version 1.3) | -0.526965 (Deleterious) |
| FATHMM raw prediction score | 0.15844 (Tolerated) |
| SIFT score | 0.253 (Tolerated) |
| LRT score | 0.381 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.145 (Tolerated) |
| PROVEAN score | -1.74 (Tolerated) |
| MetaSVM score | -1.065 (Tolerated) |
| MetaLR score | 0.038 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.677 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -5.71 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.852 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.145 |
| Deleterious probability by iFish2 | 0.0065 (Neutral) |
| Deleterious probability by DeFine | 0.8732 (Deleterious) |
| Entrez Gene ID | 388324 (NCBI Gene) |
|---|---|
| Official Gene Symbol | INCA1 (GeneCards) |
| Number of variants in INCA1 in this database | 1 (view all the variants) |
| Full name | inhibitor of CDK, cyclin A1 interacting protein 1 |
| Band | 17p13.2 |
| Other IDs | Vega: OTTHUMG00000177768 OMIM: 617374 HGNC: HGNC:32224 Ensembl: ENSG00000196388 |
| Other names | HSD45 |
| Summary | None |
| Individual ID | 28714951.317 (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; |