|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
|
24362816 |
2014 |
|
rs63750206
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele.
|
19142183 |
2009 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele.
|
19142183 |
2009 |
|
rs63750206
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.
|
18337503 |
2008 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
|
17312306 |
2007 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer.
|
17440950 |
2007 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families.
|
16810763 |
2006 |
|
rs63750206
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R).
|
16982745 |
2006 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
|
16995940 |
2006 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutations from Italian HNPCC families (G224D, G67R, N635S, and K618A) were all ineffective at reversing the phenotype of the MLH1-defective A2780 cells.
|
16982745 |
2006 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
|
15713769 |
2005 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.
|
15563510 |
2005 |
|
rs63750206
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
|
16083711 |
2005 |
|
rs63750206
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR.
|
15613555 |
2004 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR.
|
15613555 |
2004 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
|
14961575 |
2004 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
|
12658575 |
2003 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review.
|
12419761 |
2002 |
|
rs63750206
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
|
11555625 |
2001 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
|
9697702 |
1998 |
|
rs63750206
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.
|
8521398 |
1995 |
|
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.
|
8521398 |
1995 |
|
rs63750206
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
|
|
|