| Variant ID | 29691 |
|---|---|
| Entrez Gene ID | 57589 |
| Gene | KIAA1432 (GeneCards) |
| Location | hg19 9:5769178-5769178
hg38 9:5769178-5769178 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.5769178 A>G (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2695 |
| CADD Raw score (version 1.3) | 1.403847 (Deleterious) |
| FATHMM raw prediction score | 0.98789 (Tolerated) |
| SIFT score | 0.947 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.695 (Tolerated) |
| PROVEAN score | 0.49 (Tolerated) |
| MetaSVM score | -0.838 (Tolerated) |
| MetaLR score | 0.207 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.82 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.064 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.181 |
| Deleterious probability by iFish2 | 0.0031 (Neutral) |
| Deleterious probability by DeFine | 0.9375 (Deleterious) |
| Entrez Gene ID | 57589 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIAA1432 (GeneCards) |
| Number of variants in RIC1 in this database | 1 (view all the variants) |
| Full name | RIC1 homolog, RAB6A GEF complex partner 1 |
| Band | 9p24.1 |
| Other IDs | Vega: OTTHUMG00000019505 OMIM: 610354 HGNC: HGNC:17686 Ensembl: ENSG00000107036 |
| Other names | CIP150, KIAA1432, bA207C16.1 |
| Summary | None |
| Individual ID | 28714951.367 (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; |