| Variant ID | 29154 |
|---|---|
| Entrez Gene ID | 51493 |
| Gene | RTCB (GeneCards) |
| Location | hg19 22:32804767-32804767
hg38 22:32408780-32408780 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000022.10:g.32804767 T>A (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0638 |
| CADD Raw score (version 1.3) | 3.826035 (Deleterious) |
| FATHMM raw prediction score | 0.92114 (Tolerated) |
| SIFT score | 0.568 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.465 (Deleterious) |
| PROVEAN score | -1.84 (Tolerated) |
| MetaSVM score | -1.008 (Tolerated) |
| MetaLR score | 0.099 (Tolerated) |
| MCAP score | 0.016 (Tolerated) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.231 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.153 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.588 |
| Deleterious probability by iFish2 | 0.8299 (Deleterious) |
| Deleterious probability by DeFine | 0.7701 (Deleterious) |
| Entrez Gene ID | 51493 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RTCB (GeneCards) |
| Number of variants in RTCB in this database | 4 (view all the variants) |
| Full name | RNA 2',3'-cyclic phosphate and 5'-OH ligase |
| Band | 22q12.3 |
| Other IDs | Vega: OTTHUMG00000030300 OMIM: 613901 HGNC: HGNC:26935 Ensembl: ENSG00000100220 |
| Other names | FAAP, HSPC117, C22orf28, DJ149A16.6 |
| Summary | None |
| Individual ID | 28503910.31 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |