| Variant ID | 580 |
|---|---|
| Entrez Gene ID | 324 |
| Gene | APC (GeneCards) |
| Location | hg19 5:112175480-112175480
hg38 5:112839783-112839783 |
| Disease | Familial adenomatous polyposis (view all the variants in this disease) |
| Method | PCR cloning |
| Mutation(HGVS format) | NC_000005.9:g.112175480 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1397 |
| Amino acid changes in protein | E > Z |
| Position in cDNA | 4189 |
| Changes in cDNA | G > T |
| mRNA accession | NM_000038.5 |
| mRNA length | 8532 |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6522 |
| CADD Raw score (version 1.3) | 6.142125 (Deleterious) |
| FATHMM raw prediction score | 0.93465 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.1 (Tolerated) |
| PROVEAN score | -3.13 (Deleterious) |
| MetaSVM score | 0.452 (Deleterious) |
| MetaLR score | 0.745 (Deleterious) |
| MCAP score | 0.097 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.17 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.385 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.49 |
| Deleterious probability by DeFine | 0.9618 (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 | 9973305.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 9973305 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Familial adenomatous polyposis (view all the variants in this disease) |
| OMIM ID | 175100 |
| Pubmed ID | 9973305 |
|---|---|
| Title | Mosaicism and sporadic familial adenomatous polyposis |
| Journal | American Journal of Human Genetics |
| Publication date | 1999.02 |
| Disease | Familial adenomatous polyposis |
| Number of cases | Female cases: 1; cases of unknown sex: 1; |