rs786201856
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Apart from the two previously reported mutation hotspots c.3927_3931delAAAGA (20.47%) and c.3183_3187delACAAA (7.09%), c.847C>T/p.Arg283Ter variant occurred with a frequency of 3.15% (4 out of 127) in Chinese FAP patients.
|
26625971 |
2016 |
rs786201856
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We conclude that an Arg283Ter mutation in the APC gene is causative of the FAP phenotype in this family, although there is considerable variation in the presentation of this disease among affected individuals.
|
12901799 |
2003 |
rs786201856
|
|
|
0.730 |
GeneticVariation |
BEFREE |
An Arg283Stop mutation in exon 8 was found in 5 members in another family; 4 of them had FAP and all had small hypopigmented white lesions, probably a new type of CHRPE.
|
10755094 |
2000 |
rs786201856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
|
|
|
rs137854580
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).
|
21995949 |
2012 |
rs62619935
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).
|
21995949 |
2012 |
rs72541816
|
|
|
0.720 |
GeneticVariation |
BEFREE |
However, special attention must be given to the missense mutations Asp1822Val and Ser2621Cys since their segregation with the FAP phenotype is questionable.
|
11668620 |
2001 |
rs137854580
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |
rs62619935
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |
rs72541816
|
|
|
0.720 |
GeneticVariation |
BEFREE |
One previously described as a causative germline mutation (S2621C), associated with a 1-bp insertion (4684insA) on the opposite allele, did not segregate with the FAP phenotype in the family and was therefore considered as being non-pathogenic.
|
9341879 |
1997 |
rs137854580
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs62619935
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs72541816
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
|
|
|
rs121913224
|
|
|
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 |
rs397515734
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the mutated allele in normal controls. c.694C>T was detected in only affected members and generated a premature stop codon in APC.
|
24735542 |
2014 |
rs121913224
|
|
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 |
rs397515734
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.
|
20924072 |
2011 |
rs397515734
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype.
|
21110124 |
2011 |
rs397515734
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.
|
20649969 |
2010 |
rs137854575
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
|
19793053 |
2009 |
rs137854575
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.
|
19444466 |
2009 |
rs121913224
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
APC gene mutations causing familial adenomatous polyposis in Polish patients.
|
19029688 |
2008 |
rs137854575
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
APC gene mutations causing familial adenomatous polyposis in Polish patients.
|
19029688 |
2008 |
rs137854575
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
|
17411426 |
2007 |
rs137854575
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis.
|
17785554 |
2007 |