| Variant ID | 29819 |
|---|---|
| Entrez Gene ID | 93594 |
| Gene | TBC1D31 (GeneCards) |
| Location | hg19 8:124142531-124142531
hg38 8:123130291-123130291 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000008.10:g.124142531 G>A (Genome Assembly: hg19) |
| 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2261 |
| CADD Raw score (version 1.3) | -0.183169 (Deleterious) |
| FATHMM raw prediction score | 0.18215 (Tolerated) |
| Deleterious probability by DeFine | 0.6091 (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 | 28867142.66 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |