| Variant ID | 14285 |
|---|---|
| Entrez Gene ID | 282996 |
| Gene | RBM20 (GeneCards) |
| Location | hg19 10:112621139-112621139
hg38 10:110861381-110861381 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.112621139 C>T (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0982 |
| CADD Raw score (version 1.3) | -0.02552 (Deleterious) |
| FATHMM raw prediction score | 0.23924 (Tolerated) |
| Deleterious probability by DeFine | 0.6179 (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 | 29217584.10 (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; |