| Variant ID | 990 |
|---|---|
| Entrez Gene ID | 5067 |
| Gene | CNTN3 (GeneCards) |
| Location | hg19 3:74344324-74344324
hg38 3:74295173-74295173 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.74344324 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 822 |
| Amino acid changes in protein | S > L |
| 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 | -0.1721 |
| CADD Raw score (version 1.3) | 2.415458 (Deleterious) |
| FATHMM raw prediction score | 0.34444 (Tolerated) |
| SIFT score | 0.409 (Tolerated) |
| LRT score | 0.008 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.3 (Deleterious) |
| PROVEAN score | -3.2 (Deleterious) |
| MetaSVM score | -0.791 (Tolerated) |
| MetaLR score | 0.271 (Tolerated) |
| MCAP score | 0.019 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.63 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.99 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.151 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.698 |
| Deleterious probability by iFish2 | 0.8419 (Deleterious) |
| Deleterious probability by DeFine | 0.8111 (Deleterious) |
| Entrez Gene ID | 5067 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNTN3 (GeneCards) |
| Number of variants in CNTN3 in this database | 12 (view all the variants) |
| Full name | contactin 3 |
| Band | 3p12.3 |
| Other IDs | Vega: OTTHUMG00000158813 OMIM: 601325 HGNC: HGNC:2173 Ensembl: ENSG00000113805 |
| Other names | PCS, PANG, BIG-1 |
| Summary | None |
| 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; |