| Variant ID | 27363 |
|---|---|
| Entrez Gene ID | 120237 |
| Gene | DBX1 (GeneCards) |
| Location | hg19 11:20338255-20338255
hg38 11:20316709-20316709 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.20338255 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| EIGEN score | -0.816 |
| CADD Raw score (version 1.3) | -0.835849 (Deleterious) |
| FATHMM raw prediction score | 0.02917 (Tolerated) |
| Deleterious probability by DeFine | 0.1284 (Neutral) |
| Entrez Gene ID | 120237 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DBX1 (GeneCards) |
| Number of variants in DBX1 in this database | 3 (view all the variants) |
| Full name | developing brain homeobox 1 |
| Band | 11p15.1 |
| Other IDs | Vega: OTTHUMG00000166043 HGNC: HGNC:33185 Ensembl: ENSG00000109851 |
| Other names | None |
| Summary | None |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |