| Variant ID | 25531 |
|---|---|
| Entrez Gene ID | 166863 |
| Gene | RBM46 (GeneCards) |
| Location | hg19 4:156112450-156112450
hg38 4:155191298-155191298 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000004.11:g.156112450 G>C (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2148 |
| CADD Raw score (version 1.3) | 1.338359 (Deleterious) |
| FATHMM raw prediction score | 0.62959 (Tolerated) |
| Deleterious probability by DeFine | 0.1954 (Neutral) |
| Entrez Gene ID | 166863 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RBM46 (GeneCards) |
| Number of variants in RBM46 in this database | 7 (view all the variants) |
| Full name | RNA binding motif protein 46 |
| Band | 4q32.1 |
| Other IDs | Vega: OTTHUMG00000161543 HGNC: HGNC:28401 Ensembl: ENSG00000151962 |
| Other names | CT68 |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |