Variant ID | 27454 |
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Entrez Gene ID | 89795 |
Gene | NAV3 (GeneCards) |
Location | hg19 12:78664545-78664545
hg38 12:78270765-78270765 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000012.11:g.78664545 C>A (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 |
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EIGEN score | -0.2573 |
CADD Raw score (version 1.3) | 0.110364 (Deleterious) |
FATHMM raw prediction score | 0.06637 (Tolerated) |
Deleterious probability by DeFine | 0.184 (Neutral) |
Entrez Gene ID | 89795 (NCBI Gene) |
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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 | 29217587.02 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |