| Variant ID | 29356 |
|---|---|
| Entrez Gene ID | 89795 |
| Gene | NAV3 (GeneCards) |
| Location | hg19 12:78511923-78511923
hg38 12:78118143-78118143 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.78511923 G>T (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2661 |
| CADD Raw score (version 1.3) | 5.160474 (Deleterious) |
| FATHMM raw prediction score | 0.15448 (Tolerated) |
| SIFT score | 0.061 (Tolerated) |
| LRT score | 0.001 |
| MutationTaster score | 0.998 (Deleterious) |
| MutatioinAssessor score | 2.26 (Deleterious) |
| PROVEAN score | -2.43 (Tolerated) |
| MetaSVM score | -1.035 (Tolerated) |
| MetaLR score | 0.123 (Tolerated) |
| MCAP score | 0.018 (Tolerated) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.975 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.31 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.145 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.441 |
| Deleterious probability by iFish2 | 0.2031 (Neutral) |
| Deleterious probability by DeFine | 0.6129 (Deleterious) |
| Entrez Gene ID | 89795 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NAV3 (GeneCards) |
| Number of variants in NAV3 in this database | 15 (view all the variants) |
| Full name | neuron navigator 3 |
| Band | 12q21.2 |
| Other IDs | Vega: OTTHUMG00000170001 OMIM: 611629 HGNC: HGNC:15998 Ensembl: ENSG00000067798 |
| Other names | POMFIL1, nc53H3, STEERIN3 |
| Summary | This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.32 (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; |