| Variant ID | 17448 |
|---|---|
| Entrez Gene ID | 56163 |
| Gene | RNF17 (GeneCards) |
| Location | hg19 13:25385875-25385875
hg38 13:24811737-24811737 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.25385875 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3135 |
| CADD Raw score (version 1.3) | 0.09385 (Deleterious) |
| FATHMM raw prediction score | 0.04254 (Tolerated) |
| Deleterious probability by DeFine | 0.0788 (Neutral) |
| Entrez Gene ID | 56163 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RNF17 (GeneCards) |
| Number of variants in RNF17 in this database | 5 (view all the variants) |
| Full name | ring finger protein 17 |
| Band | 13q12.12 |
| Other IDs | Vega: OTTHUMG00000016589 OMIM: 605793 HGNC: HGNC:10060 Ensembl: ENSG00000132972 |
| Other names | TDRD4, Mmip-2, SPATA23 |
| Summary | This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010] |
| Individual ID | 29217584.10 (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; |