Overview

Variant ID 6581
Entrez Gene ID 84570
Gene COL25A1 (GeneCards)
Location hg19 4:110030683-110030683
hg38 4:109109527-109109527
Disease
Method HiSeq X Ten
Mutation(HGVS format) NC_000004.11:g.110030683 C>T (Genome Assembly: GRCh37)

Other information

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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.5745
CADD Raw score (version 1.3) -0.351722 (Deleterious)
FATHMM raw prediction score 0.04984 (Tolerated)
Deleterious probability by DeFine 0.2303 (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]

Publication #1: 29217584

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;