| Variant ID | 16949 |
|---|---|
| Entrez Gene ID | 8738 |
| Gene | CRADD (GeneCards) |
| Location | hg19 12:94388645-94388645
hg38 12:93994869-93994869 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.94388645 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1464 |
| CADD Raw score (version 1.3) | 0.035555 (Deleterious) |
| FATHMM raw prediction score | 0.10114 (Tolerated) |
| Deleterious probability by DeFine | 0.212 (Neutral) |
| Entrez Gene ID | 8738 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CRADD (GeneCards) |
| Number of variants in CRADD in this database | 7 (view all the variants) |
| Full name | CASP2 and RIPK1 domain containing adaptor with death domain |
| Band | 12q22 |
| Other IDs | Vega: OTTHUMG00000170322 OMIM: 603454 HGNC: HGNC:2340 Ensembl: ENSG00000169372 |
| Other names | MRT34, RAIDD |
| Summary | This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |