| Variant ID | 889 |
|---|---|
| Entrez Gene ID | 256076 |
| Gene | COL6A5 (GeneCards) |
| Location | hg19 3:130187922-130187922
hg38 3:130469078-130469078 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.130187922 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 2358 |
| Amino acid changes in protein | E > D |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1587 |
| CADD Raw score (version 1.3) | 2.832364 (Deleterious) |
| FATHMM raw prediction score | 0.78828 (Tolerated) |
| SIFT score | 0.075 (Tolerated) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 3.16 (Deleterious) |
| PROVEAN score | -2.46 (Tolerated) |
| MetaSVM score | -0.844 (Tolerated) |
| MetaLR score | 0.227 (Tolerated) |
| MCAP score | 0.051 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.6 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.708 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.705 |
| Deleterious probability by iFish2 | 0.9045 (Deleterious) |
| Deleterious probability by DeFine | 0.9082 (Deleterious) |
| Entrez Gene ID | 256076 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL6A5 (GeneCards) |
| Number of variants in COL6A5 in this database | 1 (view all the variants) |
| Full name | collagen type VI alpha 5 chain |
| Band | 3q22.1 |
| Other IDs | Vega: OTTHUMG00000159712 OMIM: 611916 HGNC: HGNC:26674 Ensembl: ENSG00000172752 |
| Other names | VWA4, COL29A1 |
| Summary | This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |