| Variant ID | 10139 |
|---|---|
| Entrez Gene ID | 53405 |
| Gene | CLIC5 (GeneCards) |
| Location | hg19 6:45916671-45916671
hg38 6:45948934-45948934 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.45916671 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0027 |
| CADD Raw score (version 1.3) | 0.314853 (Deleterious) |
| FATHMM raw prediction score | 0.13157 (Tolerated) |
| Deleterious probability by DeFine | 0.577 (Deleterious) |
| Entrez Gene ID | 53405 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CLIC5 (GeneCards) |
| Number of variants in CLIC5 in this database | 5 (view all the variants) |
| Full name | chloride intracellular channel 5 |
| Band | 6p21.1 |
| Other IDs | Vega: OTTHUMG00000014775 OMIM: 607293 HGNC: HGNC:13517 Ensembl: ENSG00000112782 |
| Other names | MST130, DFNB102, DFNB103, MSTP130 |
| Summary | This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] |
| 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; |