|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
|
30128536 |
2019 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
|
28449805 |
2017 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
|
28514183 |
2017 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
|
27498913 |
2016 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
|
26333163 |
2015 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency.
|
26274037 |
2015 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.
|
25307252 |
2015 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
|
24323032 |
2014 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
|
23621914 |
2013 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
|
23621914 |
2013 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.
|
18176851 |
2008 |
|
rs63750138
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.
|
18176851 |
2008 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.
|
18176851 |
2008 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
In addition, an amino acid substitution of an arginine residue (c.2314C>T [p.R772W]) conserved throughout a wide variety of mutS homologs has been found in a patient not fulfilling the Bethesda criteria for HNPCC.
|
14974087 |
2004 |
|
rs63750138
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In addition, an amino acid substitution of an arginine residue (c.2314C>T [p.R772W]) conserved throughout a wide variety of mutS homologs has been found in a patient not fulfilling the Bethesda criteria for HNPCC.
|
14974087 |
2004 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
In addition, an amino acid substitution of an arginine residue (c.2314C>T [p.R772W]) conserved throughout a wide variety of mutS homologs has been found in a patient not fulfilling the Bethesda criteria for HNPCC.
|
14974087 |
2004 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.
|
12732731 |
2003 |
|
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.
|
12732731 |
2003 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.
|
11470537 |
2001 |