| Variant ID | 4508 |
|---|---|
| Entrez Gene ID | 57142 |
| Gene | RTN4 (GeneCards) |
| Location | hg19 2:55213921-55213921
hg38 2:54986785-54986785 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.55213921 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.0029 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs118078480 |
| EIGEN score | -0.1375 |
| CADD Raw score (version 1.3) | -0.060703 (Deleterious) |
| FATHMM raw prediction score | 0.12179 (Tolerated) |
| Deleterious probability by DeFine | 0.3995 (Neutral) |
| Entrez Gene ID | 57142 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RTN4 (GeneCards) |
| Number of variants in RTN4 in this database | 5 (view all the variants) |
| Full name | reticulon 4 |
| Band | 2p16.1 |
| Other IDs | Vega: OTTHUMG00000129337 OMIM: 604475 HGNC: HGNC:14085 Ensembl: ENSG00000115310 |
| Other names | ASY, NSP, NOGO, RTN-X, NSP-CL, RTN4-A, RTN4-C, RTN4-B1, RTN4-B2, NI220/250, Nbla00271, Nbla10545 |
| 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. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |