| Variant ID | 1113 |
|---|---|
| Entrez Gene ID | 282996 |
| Gene | RBM20 (GeneCards) |
| Location | hg19 10:112541183-112541183
hg38 10:110781425-110781425 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.112541183 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 272 |
| Amino acid changes in protein | Q > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.2708 |
| CADD Raw score (version 1.3) | 0.743128 (Deleterious) |
| FATHMM raw prediction score | 0.1086 (Tolerated) |
| SIFT score | 0.488 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.245 (Deleterious) |
| PROVEAN score | 0.71 (Tolerated) |
| MetaSVM score | -0.694 (Tolerated) |
| MetaLR score | 0.398 (Tolerated) |
| MCAP score | 0.113 (Deleterious) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -3.64 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.186 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.712 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.246 |
| Deleterious probability by iFish2 | 0.5125 (Deleterious) |
| Deleterious probability by DeFine | 0.8082 (Deleterious) |
| Entrez Gene ID | 282996 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RBM20 (GeneCards) |
| Number of variants in RBM20 in this database | 2 (view all the variants) |
| Full name | RNA binding motif protein 20 |
| Band | 10q25.2 |
| Other IDs | Vega: OTTHUMG00000019043 OMIM: 613171 HGNC: HGNC:27424 Ensembl: ENSG00000203867 |
| Other names | None |
| Summary | This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014] |
| 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; |