| Variant ID | 17813 |
|---|---|
| Entrez Gene ID | 283489 |
| Gene | CHAMP1 (GeneCards) |
| Location | hg19 13:115088644-115088644
hg38 13:114323169-114323169 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.115088644 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0014 |
| CADD Raw score (version 1.3) | 0.029339 (Deleterious) |
| FATHMM raw prediction score | 0.19972 (Tolerated) |
| Deleterious probability by DeFine | 0.3514 (Neutral) |
| Entrez Gene ID | 283489 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHAMP1 (GeneCards) |
| Number of variants in CHAMP1 in this database | 2 (view all the variants) |
| Full name | chromosome alignment maintaining phosphoprotein 1 |
| Band | 13q34 |
| Other IDs | Vega: OTTHUMG00000017404 OMIM: 616327 HGNC: HGNC:20311 Ensembl: ENSG00000198824 |
| Other names | CAMP, CHAMP, MRD40, ZNF828, C13orf8 |
| Summary | This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017] |
| 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; |