| Variant ID | 20996 |
|---|---|
| Entrez Gene ID | 50509 |
| Gene | COL5A3 (GeneCards) |
| Location | hg19 19:10084645-10084645
hg38 19:9973969-9973969 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.10084645 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003239 |
|---|---|
| EIGEN score | 0.6454 |
| CADD Raw score (version 1.3) | 5.947875 (Deleterious) |
| FATHMM raw prediction score | 0.99231 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.275 (Tolerated) |
| PROVEAN score | -7.31 (Deleterious) |
| MetaSVM score | 0.914 (Deleterious) |
| MetaLR score | 0.902 (Deleterious) |
| MCAP score | 0.331 (Deleterious) |
| FitCons score | 0.516 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.84 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.977 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.431 |
| Deleterious probability by iFish2 | 0.7765 (Deleterious) |
| Deleterious probability by DeFine | 0.9554 (Deleterious) |
| Entrez Gene ID | 50509 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL5A3 (GeneCards) |
| Number of variants in COL5A3 in this database | 6 (view all the variants) |
| Full name | collagen type V alpha 3 chain |
| Band | 19p13.2 |
| Other IDs | Vega: OTTHUMG00000150019 OMIM: 120216 HGNC: HGNC:14864 Ensembl: ENSG00000080573 |
| Other names | None |
| Summary | This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |