| Variant ID | 7147 |
|---|---|
| Entrez Gene ID | 84570 |
| Gene | COL25A1 (GeneCards) |
| Location | hg19 4:110155657-110155657
hg38 4:109234501-109234501 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.110155657 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0557 |
| CADD Raw score (version 1.3) | 0.040416 (Deleterious) |
| FATHMM raw prediction score | 0.20812 (Tolerated) |
| Deleterious probability by DeFine | 0.3894 (Neutral) |
| Entrez Gene ID | 84570 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL25A1 (GeneCards) |
| Number of variants in COL25A1 in this database | 16 (view all the variants) |
| Full name | collagen type XXV alpha 1 chain |
| Band | 4q25 |
| Other IDs | Vega: OTTHUMG00000150039 OMIM: 610004 HGNC: HGNC:18603 Ensembl: ENSG00000188517 |
| Other names | AMY, CLAC, CLACP, CFEOM5, CLAC-P |
| Summary | This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 29217584.18 (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; |