|
rs63750217
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland.
|
28369810 |
2017 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
|
19669161 |
2010 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.
|
17505997 |
2007 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.
|
17210669 |
2007 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.
|
17054581 |
2006 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
|
16451135 |
2006 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
|
16083711 |
2005 |
|
rs63750217
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction.
|
15864295 |
2005 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction.
|
15864295 |
2005 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
|
12810663 |
2003 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
|
10037723 |
1999 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Inhibition of aldehyde reductase by acidic metabolites of the biogenic amines.
|
16 |
1975 |
|
rs63750217
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
|
|
|