| Variant ID | 865 |
|---|---|
| Entrez Gene ID | 114788 |
| Gene | CSMD3 (GeneCards) |
| Location | hg19 8:113403005-113403005
hg38 8:112390776-112390776 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000008.10:g.113403005 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1901 |
| Amino acid changes in protein | G > E |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3644284 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | 0.274 |
| CADD Raw score (version 1.3) | 4.603805 (Deleterious) |
| FATHMM raw prediction score | 0.9816 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.61 (Deleterious) |
| PROVEAN score | -7.38 (Deleterious) |
| MetaSVM score | -0.697 (Tolerated) |
| MetaLR score | 0.229 (Tolerated) |
| MCAP score | 0.041 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.41 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.894 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.25 |
| Deleterious probability by iFish2 | 0.9792 (Deleterious) |
| Deleterious probability by DeFine | 0.9376 (Deleterious) |
| Entrez Gene ID | 114788 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CSMD3 (GeneCards) |
| Number of variants in CSMD3 in this database | 54 (view all the variants) |
| Full name | CUB and Sushi multiple domains 3 |
| Band | 8q23.3 |
| Other IDs | Vega: OTTHUMG00000157027 OMIM: 608399 HGNC: HGNC:19291 Ensembl: ENSG00000164796 |
| Other names | None |
| Summary | None |
| Individual ID | 27788131.01 (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; |