|
rs876660439
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetic and clinical characterisation of familial adenomatous polyposis: a population based study.
|
12010888 |
2002 |
|
rs876660375
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
The Adenomatous Polyposis Coli-protein (APC) interacts with the protein tyrosine phosphatase PTP-BL via an alternatively spliced PDZ domain.
|
10951583 |
2000 |
|
rs876660375
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular basis for the recognition of adenomatous polyposis coli by the Discs Large 1 protein.
|
21858148 |
2011 |
|
rs876660375
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Self-association of the APC tumor suppressor is required for the assembly, stability, and activity of the Wnt signaling destruction complex.
|
25208568 |
2014 |
|
rs876660375
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Structure of the human discs large 1 PDZ2- adenomatous polyposis coli cytoskeletal polarity complex: insight into peptide engagement and PDZ clustering.
|
23185543 |
2012 |
|
rs876660375
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
The APC-hDLG complex negatively regulates cell cycle progression from the G0/G1 to S phase.
|
10656683 |
2000 |
|
rs876660375
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular basis for the recognition of adenomatous polyposis coli by the Discs Large 1 protein.
|
21858148 |
2011 |
|
rs876660265
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs876660174
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs876660130
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Gene symbol: APC. Disease: adenomatous polyposis coli.
|
17230660 |
2006 |
|
rs876660130
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
[A novel APC gene germline mutation in a familial adenomatous polyposis pedigree].
|
16883523 |
2006 |
|
rs876659973
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
|
17411426 |
2007 |
|
rs876659973
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
|
15459959 |
2004 |
|
rs876659652
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs876659647
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.
|
24664542 |
2014 |
|
rs876659647
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
|
20685668 |
2010 |
|
rs876659647
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.
|
9101302 |
1997 |
|
rs876659647
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.
|
8162022 |
1994 |
|
rs876659647
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
|
20223039 |
2005 |
|
rs876659647
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinicopathological features of familial adenomatous polyposis in Korean patients.
|
27158207 |
2016 |
|
rs876659539
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.
|
11247896 |
2001 |
|
rs876659517
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.
|
15951963 |
2005 |
|
rs876659517
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.
|
23159591 |
2013 |
|
rs876659517
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.
|
9950360 |
1999 |
|
rs876659517
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.
|
1316610 |
1992 |