| Variant ID | 21585 |
|---|---|
| Entrez Gene ID | 861 |
| Gene | RUNX1 (GeneCards) |
| Location | hg19 21:36400589-36400589
hg38 21:35028292-35028292 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.36400589 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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000646 |
|---|---|
| EIGEN score | -0.073 |
| CADD Raw score (version 1.3) | -0.011769 (Deleterious) |
| FATHMM raw prediction score | 0.13932 (Tolerated) |
| Deleterious probability by DeFine | 0.4963 (Neutral) |
| Entrez Gene ID | 861 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RUNX1 (GeneCards) |
| Number of variants in RUNX1 in this database | 3 (view all the variants) |
| Full name | runt related transcription factor 1 |
| Band | 21q22.12 |
| Other IDs | Vega: OTTHUMG00000086299 OMIM: 151385 HGNC: HGNC:10471 Ensembl: ENSG00000159216 |
| Other names | AML1, CBFA2, EVI-1, AMLCR1, PEBP2aB, CBF2alpha, AML1-EVI-1, PEBP2alpha |
| Summary | Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| 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; |