| Variant ID | 14764 |
|---|---|
| Entrez Gene ID | 1305 |
| Gene | COL13A1 (GeneCards) |
| Location | hg19 10:71680890-71680890
hg38 10:69921134-69921134 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.71680890 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1348 |
| CADD Raw score (version 1.3) | 0.000281 (Deleterious) |
| FATHMM raw prediction score | 0.1264 (Tolerated) |
| Deleterious probability by DeFine | 0.47 (Neutral) |
| Entrez Gene ID | 1305 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL13A1 (GeneCards) |
| Number of variants in COL13A1 in this database | 4 (view all the variants) |
| Full name | collagen type XIII alpha 1 chain |
| Band | 10q22.1 |
| Other IDs | Vega: OTTHUMG00000018394 OMIM: 120350 HGNC: HGNC:2190 Ensembl: ENSG00000197467 |
| Other names | CMS19, COLXIIIA1 |
| Summary | This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [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; |