| Variant ID | 29551 |
|---|---|
| Entrez Gene ID | 93594 |
| Gene | TBC1D31 (GeneCards) |
| Location | hg19 8:124140567-124140567
hg38 8:123128327-123128327 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000008.10:g.124140567 G>C (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1268 |
| CADD Raw score (version 1.3) | 3.136981 (Deleterious) |
| FATHMM raw prediction score | 0.86812 (Tolerated) |
| SIFT score | 0.024 (Deleterious) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.555 (Deleterious) |
| PROVEAN score | -2.41 (Tolerated) |
| MetaSVM score | -1.02 (Tolerated) |
| MetaLR score | 0.065 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.95 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.63 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.51 |
| Deleterious probability by iFish2 | 0.0215 (Neutral) |
| Deleterious probability by DeFine | 0.8384 (Deleterious) |
| Entrez Gene ID | 93594 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TBC1D31 (GeneCards) |
| Number of variants in TBC1D31 in this database | 5 (view all the variants) |
| Full name | TBC1 domain family member 31 |
| Band | 8q24.13 |
| Other IDs | Vega: OTTHUMG00000165081 HGNC: HGNC:30888 Ensembl: ENSG00000156787 |
| Other names | Gm85, WDR67 |
| Summary | None |
| Individual ID | 28714951.227 (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; |