| Variant ID | 6088 |
|---|---|
| Entrez Gene ID | 323 |
| Gene | APBB2 (GeneCards) |
| Location | hg19 4:40972440-40972440
hg38 4:40970423-40970423 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000004.11:g.40972440 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1451 |
| CADD Raw score (version 1.3) | 0.080978 (Deleterious) |
| FATHMM raw prediction score | 0.12491 (Tolerated) |
| Deleterious probability by DeFine | 0.3992 (Neutral) |
| Entrez Gene ID | 323 (NCBI Gene) |
|---|---|
| Official Gene Symbol | APBB2 (GeneCards) |
| Number of variants in APBB2 in this database | 5 (view all the variants) |
| Full name | amyloid beta precursor protein binding family B member 2 |
| Band | 4p14-p13 |
| Other IDs | Vega: OTTHUMG00000160416 OMIM: 602710 HGNC: HGNC:582 Ensembl: ENSG00000163697 |
| Other names | FE65L, FE65L1 |
| Summary | The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
| 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; |