| Variant ID | 1817 |
|---|---|
| Entrez Gene ID | 325 |
| Gene | APCS (GeneCards) |
| Location | hg19 1:159675688-159675688
hg38 1:159705898-159705898 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.159675688 C>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0828 |
| CADD Raw score (version 1.3) | 0.254545 (Deleterious) |
| FATHMM raw prediction score | 0.16331 (Tolerated) |
| Deleterious probability by DeFine | 0.7594 (Deleterious) |
| Entrez Gene ID | 325 (NCBI Gene) |
|---|---|
| Official Gene Symbol | APCS (GeneCards) |
| Number of variants in APCS in this database | 2 (view all the variants) |
| Full name | amyloid P component, serum |
| Band | 1q23.2 |
| Other IDs | Vega: OTTHUMG00000022741 OMIM: 104770 HGNC: HGNC:584 Ensembl: ENSG00000132703 |
| Other names | SAP, PTX2, HEL-S-92n |
| Summary | The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008] |
| Individual ID | 29217584.06 (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; |