| Variant ID | 17047 |
|---|---|
| Entrez Gene ID | 23504 |
| Gene | RIMBP2 (GeneCards) |
| Location | hg19 12:131259999-131259999
hg38 12:130775454-130775454 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.131259999 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5861 |
| CADD Raw score (version 1.3) | -0.607145 (Deleterious) |
| FATHMM raw prediction score | 0.08297 (Tolerated) |
| Deleterious probability by DeFine | 0.1938 (Neutral) |
| Entrez Gene ID | 23504 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RIMBP2 (GeneCards) |
| Number of variants in RIMBP2 in this database | 10 (view all the variants) |
| Full name | RIMS binding protein 2 |
| Band | 12q24.33 |
| Other IDs | Vega: OTTHUMG00000168385 OMIM: 611602 HGNC: HGNC:30339 Ensembl: ENSG00000060709 |
| Other names | RBP2, RIM-BP2, PPP1R133 |
| Summary | None |
| 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; |