| Variant ID | 19793 |
|---|---|
| Entrez Gene ID | 9423 |
| Gene | NTN1 (GeneCards) |
| Location | hg19 17:8939208-8939208
hg38 17:9035891-9035891 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.8939208 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7897 |
| CADD Raw score (version 1.3) | -0.594236 (Deleterious) |
| FATHMM raw prediction score | 0.03047 (Tolerated) |
| Deleterious probability by DeFine | 0.1194 (Neutral) |
| Entrez Gene ID | 9423 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NTN1 (GeneCards) |
| Number of variants in NTN1 in this database | 1 (view all the variants) |
| Full name | netrin 1 |
| Band | 17p13.1 |
| Other IDs | Vega: OTTHUMG00000130257 OMIM: 601614 HGNC: HGNC:8029 Ensembl: ENSG00000065320 |
| Other names | NTN1L |
| Summary | Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008] |
| 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; |