| Variant ID | 16948 |
|---|---|
| Entrez Gene ID | 11103 |
| Gene | KRR1 (GeneCards) |
| Location | hg19 12:76054656-76054656
hg38 12:75660876-75660876 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.76054656 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 | 0.1075 |
| CADD Raw score (version 1.3) | 0.145944 (Deleterious) |
| FATHMM raw prediction score | 0.18406 (Tolerated) |
| Deleterious probability by DeFine | 0.6038 (Deleterious) |
| Entrez Gene ID | 11103 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRR1 (GeneCards) |
| Number of variants in KRR1 in this database | 11 (view all the variants) |
| Full name | KRR1, small subunit processome component homolog |
| Band | 12q21.2 |
| Other IDs | Vega: OTTHUMG00000169759 OMIM: 612817 HGNC: HGNC:5176 Ensembl: ENSG00000111615 |
| Other names | HRB2, RIP-1 |
| Summary | None |
| 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; |