|
rs34612342
|
|
MUTYH-Associate Polyposis
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
|
rs34612342
|
|
MUTYH-Associate Polyposis
|
C |
0.800 |
CausalMutation
|
CLINVAR |
In MAP patients of European origin, the combined allele frequency of the mutations p.Tyr179Cys and p.Gly396Asp ranges between 50 and 82%, while these mutations have not been identified in Far Eastern Asian populations, supporting the hypothesis that a founder effect has occurred at some point in European history.
|
23361220 |
2014 |
|
rs34612342
|
|
MUTYH-Associate Polyposis
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
|
18534194 |
2008 |
|
rs34612342
|
|
MUTYH-Associate Polyposis
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.
|
16616356 |
2006 |
|
rs34612342
|
|
MUTYH-Associate Polyposis
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
|
16140997 |
2005 |
|
rs36053993
|
|
MUTYH-Associate Polyposis
|
T |
0.770 |
CausalMutation
|
CLINVAR |
MAP patients carrying the p.Glu480del variant presented with a younger age at polyp diagnosis as compared to patients carrying p.Gly396Asp and p.Tyr179Cys variants.
|
27829682 |
2017 |
|
rs36053993
|
|
MUTYH-Associate Polyposis
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
|
rs36053993
|
|
MUTYH-Associate Polyposis
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
|
24953332 |
2014 |
|
rs36053993
|
|
MUTYH-Associate Polyposis
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
|
24278394 |
2013 |
|
rs36053993
|
|
MUTYH-Associate Polyposis
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
|
22703879 |
2012 |
|
rs36053993
|
|
MUTYH-Associate Polyposis
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
|
20848659 |
2010 |
|
rs36053993
|
|
MUTYH-Associate Polyposis
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.
|
19836313 |
2009 |
|
rs140342925
|
|
MUTYH-Associate Polyposis
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
|
rs140342925
|
|
MUTYH-Associate Polyposis
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
|
rs140342925
|
|
MUTYH-Associate Polyposis
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
|
18534194 |
2008 |
|
rs140342925
|
|
MUTYH-Associate Polyposis
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
|
16134147 |
2005 |
|
rs587780078
|
|
MUTYH-Associate Polyposis
|
TCC |
0.710 |
CausalMutation
|
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
rs587780078
|
|
MUTYH-Associate Polyposis
|
TCC |
0.710 |
CausalMutation
|
CLINVAR |
Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.
|
23108399 |
2013 |
|
rs587780078
|
|
MUTYH-Associate Polyposis
|
TCC |
0.710 |
CausalMutation
|
CLINVAR |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |
|
rs587780078
|
|
MUTYH-Associate Polyposis
|
TCC |
0.710 |
CausalMutation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
|
rs1060501335
|
|
MUTYH-Associate Polyposis
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
|
rs1060501335
|
|
MUTYH-Associate Polyposis
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.
|
23322991 |
2012 |
|
rs1060501335
|
|
MUTYH-Associate Polyposis
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
|
20848659 |
2010 |
|
rs1060501335
|
|
MUTYH-Associate Polyposis
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.
|
17949294 |
2007 |
|
rs1060501335
|
|
MUTYH-Associate Polyposis
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.
|
16941501 |
2006 |