| Variant ID | 29351 |
|---|---|
| Entrez Gene ID | 414059 |
| Gene | TBC1D3B (GeneCards) |
| Location | hg19 17:34499272-34499272
hg38 17:36171913-36171913 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.34499272 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3477 |
| CADD Raw score (version 1.3) | 4.226871 (Deleterious) |
| FATHMM raw prediction score | 0.88611 (Tolerated) |
| LRT score | 0.513 |
| MutationTaster score | 0.998 (Tolerated) |
| MutatioinAssessor score | 1.47 (Tolerated) |
| MetaSVM score | -1.047 (Tolerated) |
| MetaLR score | 0.026 (Tolerated) |
| FitCons score | 0.693 (Highly Significant p < 0.003 ) |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.8 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| Deleterious probability by DeFine | 0.4548 (Neutral) |
| Entrez Gene ID | 414059 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TBC1D3B (GeneCards) |
| Number of variants in TBC1D3B in this database | 1 (view all the variants) |
| Full name | TBC1 domain family member 3B |
| Band | 17q12 |
| Other IDs | Vega: OTTHUMG00000188417 OMIM: 610144 HGNC: HGNC:27011 Ensembl: ENSG00000274808 |
| Other names | PRC17, TBC1D3I, TBC1D3L |
| Summary | This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009] |
| Individual ID | 28714951.27 (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; |