| Variant ID | 18032 |
|---|---|
| Entrez Gene ID | 6252 |
| Gene | RTN1 (GeneCards) |
| Location | hg19 14:60113825-60113825
hg38 14:59647107-59647107 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.60113825 G>T (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 | 0.5234 |
| CADD Raw score (version 1.3) | 2.445552 (Deleterious) |
| FATHMM raw prediction score | 0.69046 (Tolerated) |
| Deleterious probability by DeFine | 0.0482 (Neutral) |
| Entrez Gene ID | 6252 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RTN1 (GeneCards) |
| Number of variants in RTN1 in this database | 4 (view all the variants) |
| Full name | reticulon 1 |
| Band | 14q23.1 |
| Other IDs | Vega: OTTHUMG00000028947 OMIM: 600865 HGNC: HGNC:10467 Ensembl: ENSG00000139970 |
| Other names | NSP |
| Summary | This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] |
| 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; |