| Variant ID | 18029 |
|---|---|
| Entrez Gene ID | 9369 |
| Gene | NRXN3 (GeneCards) |
| Location | hg19 14:79491236-79491236
hg38 14:79024893-79024893 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.79491236 G>A (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0041 |
| CADD Raw score (version 1.3) | 0.286256 (Deleterious) |
| FATHMM raw prediction score | 0.11947 (Tolerated) |
| Deleterious probability by DeFine | 0.4691 (Neutral) |
| Entrez Gene ID | 9369 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NRXN3 (GeneCards) |
| Number of variants in NRXN3 in this database | 22 (view all the variants) |
| Full name | neurexin 3 |
| Band | 14q24.3-q31.1 |
| Other IDs | Vega: OTTHUMG00000171502 OMIM: 600567 HGNC: HGNC:8010 Ensembl: ENSG00000021645 |
| Other names | C14orf60 |
| Summary | This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |