Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913224
rs121913224
APC
0.710 GeneticVariation BEFREE Genetic testing using massively parallel sequencing identified a 5-bp deletion (c.3927_3931delAAAGA) which causes frameshift (p.Glu1309Aspfs) and creates a premature stop codon, resulting in the replacement of the last 1535 amino acids of APC by five incorrect amino acids. 30340471

2018
dbSNP: rs121913224
rs121913224
APC
T 0.710 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
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688

2008
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression. 17026565

2006
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis. 14729851

2004
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. 14523376

2004
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families. 12172928

2002
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. 11247896

2001
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis. 10768871

2000
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. 10213492

1999
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. 7906810

1994
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610

1992