rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.
16830052
2006
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants.
12377806
2002
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
17510385
2007
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
The HNPCC -related hMLH1 mutations T117M , V185G, R217C, G244D, R265C, V326A, and K618T, the polymorphisms I219V and R265H, and a hMLH1 splicing variant lacking exon 9 and 10 (hMLH1 Delta 9/10) were cloned.
11781295
2002
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
15300854
2004
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.
8574961
1996
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
20020535
2010
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
8566964
1996
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.
19863800
2009
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
10480359
1999
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
MLH1 mutations differentially affect meiotic functions in Saccharomyces cerevisiae.
12618391
2003
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.
17135187
2006
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Extensive molecular screening for hereditary non-polyposis colorectal cancer.
10732761
2000
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
12810663
2003
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha.
11948175
2002
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
18561205
2008
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.
12522551
2003
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.
18470917
2008
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
22753075
2012
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
18383312
2008
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
16395668
2006
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.
19224586
2009
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
19267393
2009
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer.
11601928
2001
rs63750781
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
T
0.710
CausalMutation
CLINVAR
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
20864636
2010