| Variant ID | 29514 |
|---|---|
| Entrez Gene ID | 129880 |
| Gene | BBS5 (GeneCards) |
| Location | hg19 2:170377387-170377387
hg38 2:169520877-169520877 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.170377387 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7318 |
| CADD Raw score (version 1.3) | 6.088712 (Deleterious) |
| FATHMM raw prediction score | 0.99572 (Tolerated) |
| SIFT score | 0.052 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.945 (Deleterious) |
| MutatioinAssessor score | 1.91 (Tolerated) |
| PROVEAN score | -0.65 (Tolerated) |
| MetaSVM score | 0.11 (Deleterious) |
| MetaLR score | 0.603 (Deleterious) |
| MCAP score | 0.062 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.29 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.596 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.278 |
| Deleterious probability by iFish2 | 0.9882 (Deleterious) |
| Deleterious probability by DeFine | 0.9664 (Deleterious) |
| Entrez Gene ID | 129880 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BBS5 (GeneCards) |
| Number of variants in BBS5 in this database | 1 (view all the variants) |
| Full name | Bardet-Biedl syndrome 5 |
| Band | 2q31.1 |
| Other IDs | Vega: OTTHUMG00000132207 OMIM: 603650 HGNC: HGNC:970 Ensembl: ENSG00000163093 |
| Other names | None |
| Summary | This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.190 (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; |