| Variant ID | 27578 |
|---|---|
| Entrez Gene ID | 121536 |
| Gene | AEBP2 (GeneCards) |
| Location | hg19 12:20026081-20026081
hg38 12:19873147-19873147 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.20026081 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) | 0.4481 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs6487042 |
| EIGEN score | 0.0845 |
| CADD Raw score (version 1.3) | 1.597712 (Deleterious) |
| FATHMM raw prediction score | 0.09612 (Tolerated) |
| Deleterious probability by DeFine | 0.7334 (Deleterious) |
| Entrez Gene ID | 121536 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AEBP2 (GeneCards) |
| Number of variants in AEBP2 in this database | 13 (view all the variants) |
| Full name | AE binding protein 2 |
| Band | 12p12.3 |
| Other IDs | Vega: OTTHUMG00000168906 OMIM: 617934 HGNC: HGNC:24051 Ensembl: ENSG00000139154 |
| 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 |