| Variant ID | 17885 |
|---|---|
| Entrez Gene ID | 1282 |
| Gene | COL4A1 (GeneCards) |
| Location | hg19 13:110852791-110852791
hg38 13:110200444-110200444 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.110852791 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1517 |
| CADD Raw score (version 1.3) | 0.18239 (Deleterious) |
| FATHMM raw prediction score | 0.09241 (Tolerated) |
| Deleterious probability by DeFine | 0.2935 (Neutral) |
| Entrez Gene ID | 1282 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL4A1 (GeneCards) |
| Number of variants in COL4A1 in this database | 2 (view all the variants) |
| Full name | collagen type IV alpha 1 chain |
| Band | 13q34 |
| Other IDs | Vega: OTTHUMG00000017342 OMIM: 120130 HGNC: HGNC:2202 Ensembl: ENSG00000187498 |
| Other names | BSVD, RATOR |
| Summary | This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
| Individual ID | 29217584.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |