| Variant ID | 21494 |
|---|---|
| Entrez Gene ID | 128710 |
| Gene | SLX4IP (GeneCards) |
| Location | hg19 20:10603900-10603900
hg38 20:10623252-10623252 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.10603900 C>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5508 |
| CADD Raw score (version 1.3) | 6.158953 (Deleterious) |
| FATHMM raw prediction score | 0.6541 (Tolerated) |
| SIFT score | 0.019 (Deleterious) |
| LRT score | 0.03 (Tolerated) |
| MutationTaster score | 0.525 (Deleterious) |
| MutatioinAssessor score | 2.095 (Deleterious) |
| PROVEAN score | -3.21 (Deleterious) |
| MetaSVM score | -0.6 (Tolerated) |
| MetaLR score | 0.205 (Tolerated) |
| MCAP score | 0.02 (Tolerated) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.55 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.958 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.994 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.952 |
| Deleterious probability by iFish2 | 0.2368 (Neutral) |
| Deleterious probability by DeFine | 0.9085 (Deleterious) |
| Entrez Gene ID | 128710 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLX4IP (GeneCards) |
| Number of variants in SLX4IP in this database | 1 (view all the variants) |
| Full name | SLX4 interacting protein |
| Band | 20p12.2 |
| Other IDs | Vega: OTTHUMG00000031873 OMIM: 615958 HGNC: HGNC:16225 Ensembl: ENSG00000149346 |
| Other names | C20orf94, bA204H22.1, bA254M13.1, dJ1099D15.3 |
| 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; |