| Variant ID | 29585 |
|---|---|
| Entrez Gene ID | 23116 |
| Gene | FAM179B (GeneCards) |
| Location | hg19 14:45431638-45431638
hg38 14:44962435-44962435 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.45431638 C>G (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4763 |
| CADD Raw score (version 1.3) | 3.507501 (Deleterious) |
| FATHMM raw prediction score | 0.17484 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0.051 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.04 (Tolerated) |
| PROVEAN score | -1.62 (Tolerated) |
| MetaSVM score | -0.985 (Tolerated) |
| MetaLR score | 0.089 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.267 (Significant p < 0.05) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.99 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.208 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.428 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.068 |
| Deleterious probability by iFish2 | 0.0902 (Neutral) |
| Deleterious probability by DeFine | 0.9611 (Deleterious) |
| Entrez Gene ID | 23116 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM179B (GeneCards) |
| Number of variants in TOGARAM1 in this database | 1 (view all the variants) |
| Full name | TOG array regulator of axonemal microtubules 1 |
| Band | 14q21.2 |
| Other IDs | Vega: OTTHUMG00000140264 OMIM: 617618 HGNC: HGNC:19959 Ensembl: ENSG00000198718 |
| Other names | FAM179B, KIAA0423 |
| Summary | None |
| Individual ID | 28714951.261 (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; |