| Variant ID | 924 |
|---|---|
| Entrez Gene ID | 64478 |
| Gene | CSMD1 (GeneCards) |
| Location | hg19 8:2857543-2857543
hg38 8:3000021-3000021 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000008.10:g.2857543 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 2714 |
| Amino acid changes in protein | G > R |
| 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 |
|---|---|
| EIGEN score | 0.8737 |
| CADD Raw score (version 1.3) | 6.062553 (Deleterious) |
| FATHMM raw prediction score | 0.98343 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.095 (Deleterious) |
| PROVEAN score | -7.41 (Deleterious) |
| MetaSVM score | 0.8 (Deleterious) |
| MetaLR score | 0.749 (Deleterious) |
| MCAP score | 0.143 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.77 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.699 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.347 |
| Deleterious probability by iFish2 | 0.0178 (Neutral) |
| Deleterious probability by DeFine | 0.9629 (Deleterious) |
| Entrez Gene ID | 64478 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CSMD1 (GeneCards) |
| Number of variants in CSMD1 in this database | 84 (view all the variants) |
| Full name | CUB and Sushi multiple domains 1 |
| Band | 8p23.2 |
| Other IDs | Vega: OTTHUMG00000163605 OMIM: 608397 HGNC: HGNC:14026 Ensembl: ENSG00000183117 |
| Other names | PPP1R24 |
| 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; |