| Variant ID | 16119 |
|---|---|
| Entrez Gene ID | 9904 |
| Gene | RBM19 (GeneCards) |
| Location | hg19 12:114684429-114684429
hg38 12:114246624-114246624 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.114684429 G>A (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003233 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs187576498 |
| EIGEN score | -0.6034 |
| CADD Raw score (version 1.3) | -0.539541 (Deleterious) |
| FATHMM raw prediction score | 0.04343 (Tolerated) |
| Deleterious probability by DeFine | 0.2437 (Neutral) |
| Entrez Gene ID | 9904 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RBM19 (GeneCards) |
| Number of variants in RBM19 in this database | 9 (view all the variants) |
| Full name | RNA binding motif protein 19 |
| Band | 12q24.13-q24.21 |
| Other IDs | Vega: OTTHUMG00000169646 OMIM: 616444 HGNC: HGNC:29098 Ensembl: ENSG00000122965 |
| Other names | Mrd1 |
| Summary | This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009] |
| Individual ID | 29217584.03 (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; |