| Variant ID | 34377 |
|---|---|
| Entrez Gene ID | 324 |
| Gene | APC (GeneCards) |
| Location | hg19 5:112089093-112089093
hg38 5:112753396-112753396 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000005.9:g.112089093 A>G (Genome Assembly: hg19) |
| Exon or Intron | intron |
|---|---|
| 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4222 |
| CADD Raw score (version 1.3) | 1.644297 (Deleterious) |
| FATHMM raw prediction score | 0.23787 (Tolerated) |
| Deleterious probability by DeFine | 0.3213 (Neutral) |
| Entrez Gene ID | 324 (NCBI Gene) |
|---|---|
| Official Gene Symbol | APC (GeneCards) |
| Number of variants in APC in this database | 13 (view all the variants) |
| Full name | APC, WNT signaling pathway regulator |
| Band | 5q22.2 |
| Other IDs | Vega: OTTHUMG00000128806 OMIM: 611731 HGNC: HGNC:583 Ensembl: ENSG00000134982 |
| Other names | GS, DP2, DP3, BTPS2, DP2.5, PPP1R46 |
| Summary | This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] |
| Individual ID | 24760347.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24760347 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 24760347 |
|---|---|
| Title | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis |
| Journal | Genome Research |
| Publication date | 2014.04 |
| Disease | Asymptomatic |
| Number of cases | Female cases: 1; |