| Variant ID | 16895 |
|---|---|
| Entrez Gene ID | 89795 |
| Gene | NAV3 (GeneCards) |
| Location | hg19 12:78486076-78486076
hg38 12:78092296-78092296 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.78486076 T>C (Genome Assembly: GRCh37) |
| 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 | -0.2436 |
| CADD Raw score (version 1.3) | -0.279428 (Deleterious) |
| FATHMM raw prediction score | 0.08016 (Tolerated) |
| Deleterious probability by DeFine | 0.2906 (Neutral) |
| 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 | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |