Overview

Variant ID 28700
Entrez Gene ID 861
Gene RUNX1 (GeneCards)
Location hg19 21:36392807-36392807
hg38 21:35020510-35020510
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000021.8:g.36392807 A>C (Genome Assembly: GRCh37)

Other information

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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0.0003
EIGEN score 0.1302
CADD Raw score (version 1.3) -0.055106 (Deleterious)
FATHMM raw prediction score 0.19078 (Tolerated)
Deleterious probability by DeFine 0.3688 (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 #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID