| Variant ID | 14788 |
|---|---|
| Entrez Gene ID | 11130 |
| Gene | ZWINT (GeneCards) |
| Location | hg19 10:58816546-58816546
hg38 10:57056786-57056786 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.58816546 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3592 |
| CADD Raw score (version 1.3) | -0.162312 (Deleterious) |
| FATHMM raw prediction score | 0.05237 (Tolerated) |
| Deleterious probability by DeFine | 0.1571 (Neutral) |
| Entrez Gene ID | 11130 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZWINT (GeneCards) |
| Number of variants in ZWINT in this database | 13 (view all the variants) |
| Full name | ZW10 interacting kinetochore protein |
| Band | 10q21.1 |
| Other IDs | Vega: OTTHUMG00000018261 OMIM: 609177 HGNC: HGNC:13195 Ensembl: ENSG00000122952 |
| Other names | SIP30, ZWINT1, KNTC2AP, HZwint-1 |
| Summary | This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| 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; |