| Variant ID | 29140 |
|---|---|
| Entrez Gene ID | 84570 |
| Gene | COL25A1 (GeneCards) |
| Location | hg19 4:109762751-109762751
hg38 4:108841595-108841595 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000004.11:g.109762751 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 1.2289 |
| CADD Raw score (version 1.3) | 2.311467 (Deleterious) |
| FATHMM raw prediction score | 0.28377 (Tolerated) |
| Deleterious probability by DeFine | 0.8418 (Deleterious) |
| 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 | 28503910.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |