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 |
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 |
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 |
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 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
|
10037723 |
1999 |
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 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Inhibition of aldehyde reductase by acidic metabolites of the biogenic amines.
|
16 |
1975 |
rs587778966
|
|
AC |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs63750206
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs63750217
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs587778937
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family.
|
23712482 |
2013 |
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
|
22949379 |
2013 |
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Comprehensive functional assessment of MLH1 variants of unknown significance.
|
22736432 |
2012 |
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.
|
21952876 |
2012 |
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
rs63750781
|
|
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 |
rs63751194
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
rs63751194
|
|
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 |