| Variant ID | 4279 |
|---|---|
| Entrez Gene ID | 29851 |
| Gene | ICOS (GeneCards) |
| Location | hg19 2:204880629-204880629
hg38 2:204015906-204015906 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.204880629 A>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2233 |
| CADD Raw score (version 1.3) | -0.131872 (Deleterious) |
| FATHMM raw prediction score | 0.21434 (Tolerated) |
| Deleterious probability by DeFine | 0.4713 (Neutral) |
| Entrez Gene ID | 29851 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ICOS (GeneCards) |
| Number of variants in ICOS in this database | 5 (view all the variants) |
| Full name | inducible T cell costimulator |
| Band | 2q33.2 |
| Other IDs | Vega: OTTHUMG00000132880 OMIM: 604558 HGNC: HGNC:5351 Ensembl: ENSG00000163600 |
| Other names | AILIM, CD278, CVID1 |
| Summary | The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |