| Variant ID | 29453 |
|---|---|
| Entrez Gene ID | 23418 |
| Gene | CRB1 (GeneCards) |
| Location | hg19 1:197297759-197297759
hg38 1:197328629-197328629 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.197297759 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.913 |
| CADD Raw score (version 1.3) | -0.940636 (Deleterious) |
| FATHMM raw prediction score | 0.1156 (Tolerated) |
| SIFT score | 0.602 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.75 (Tolerated) |
| PROVEAN score | 0.04 (Tolerated) |
| MetaSVM score | -0.399 (Tolerated) |
| MetaLR score | 0.574 (Deleterious) |
| MCAP score | 0.154 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.07 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.129 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.025 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.965 |
| Deleterious probability by iFish2 | 0.0202 (Neutral) |
| Deleterious probability by DeFine | 0.7303 (Deleterious) |
| Entrez Gene ID | 23418 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CRB1 (GeneCards) |
| Number of variants in CRB1 in this database | 4 (view all the variants) |
| Full name | crumbs 1, cell polarity complex component |
| Band | 1q31.3 |
| Other IDs | Vega: OTTHUMG00000035663 OMIM: 604210 HGNC: HGNC:2343 Ensembl: ENSG00000134376 |
| Other names | LCA8, RP12 |
| Summary | This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012] |
| Individual ID | 28714951.129 (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; |