| Variant ID | 13703 |
|---|---|
| Entrez Gene ID | 1306 |
| Gene | COL15A1 (GeneCards) |
| Location | hg19 9:101767338-101767338
hg38 9:99005056-99005056 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.101767338 G>A (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3114 |
| CADD Raw score (version 1.3) | 0.271702 (Deleterious) |
| FATHMM raw prediction score | 0.79968 (Tolerated) |
| Deleterious probability by DeFine | 0.4598 (Neutral) |
| Entrez Gene ID | 1306 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL15A1 (GeneCards) |
| Number of variants in COL15A1 in this database | 1 (view all the variants) |
| Full name | collagen type XV alpha 1 chain |
| Band | 9q22.33 |
| Other IDs | Vega: OTTHUMG00000020351 OMIM: 120325 HGNC: HGNC:2192 Ensembl: ENSG00000204291 |
| Other names | None |
| Summary | This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013] |
| 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; |