| Variant ID | 16137 |
|---|---|
| Entrez Gene ID | 121536 |
| Gene | AEBP2 (GeneCards) |
| Location | hg19 12:19931508-19931508
hg38 12:19778574-19778574 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000012.11:g.19931508 C>T (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 |
|---|---|
| EIGEN score | -0.0855 |
| CADD Raw score (version 1.3) | 0.19861 (Deleterious) |
| FATHMM raw prediction score | 0.10129 (Tolerated) |
| Deleterious probability by DeFine | 0.0836 (Neutral) |
| 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 | 29217584.04 (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; |