| Variant ID | 334 |
|---|---|
| Entrez Gene ID | 324 |
| Gene | APC (GeneCards) |
| Location | hg19 5:112173991-112173992
hg38 5:112838294-112838295 |
| Disease | Adenomatous polyposis coli (view all the variants in this disease) |
| Method | ABI3130XL |
| Mutation(HGVS format) | NC_000005.9:g.112173991_112173992 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | 2700 |
| Changes in cDNA | NA > NA |
| Indel | delTC |
| mRNA accession | NM_000038.5 |
| mRNA length | 8532 |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.9116 (Deleterious) |
| 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 | 19347965.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 19347965 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Adenomatous polyposis coli (view all the variants in this disease) |
| OMIM ID | 175100 |
| Pubmed ID | 19347965 |
|---|---|
| Title | Parallel Sequencing Used in Detection of Mosaic Mutations: Comparison With Four Diagnostic DNA Screening Techniques |
| Journal | Human Mutation |
| Publication date | 2009.06 |
| Disease | Neurofibromatosis type 2 and familial adenomatous polyposis |
| Number of cases | cases of unknown sex: 2; |