Gene: FBXO11 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750138
rs63750138
MSH6 ; FBXO11
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
dbSNP: rs63750138
rs63750138
MSH6 ; FBXO11
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
dbSNP: rs63750138
rs63750138
MSH6 ; FBXO11
T 0.720 GeneticVariation CLINVAR Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. 12732731

2003
dbSNP: rs63750138
rs63750138
MSH6 ; FBXO11
T 0.720 GeneticVariation CLINVAR Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype. 11470537

2001
dbSNP: rs63750138
rs63750138
MSH6 ; FBXO11
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
dbSNP: rs1021631442
rs1021631442
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 23047549

2012
dbSNP: rs1064793489
rs1064793489
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167720
rs1114167720
MSH6 ; FBXO11
GGAGACTA 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167729
rs1114167729
MSH6 ; FBXO11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167801
rs1114167801
MSH6 ; FBXO11
G 0.700 GeneticVariation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007
dbSNP: rs1251033858
rs1251033858
MSH6 ; FBXO11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1316409501
rs1316409501
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012
dbSNP: rs1316409501
rs1316409501
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. 16203774

2005
dbSNP: rs1316409501
rs1316409501
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Saccharomyces cerevisiae Msh2p and Msh6p ATPase activities are both required during mismatch repair. 9819445

1998
dbSNP: rs146816935
rs146816935
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553332166
rs1553332166
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 28873162

2017
dbSNP: rs1553332671
rs1553332671
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553332772
rs1553332772
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553333421
rs1553333421
MSH6 ; FBXO11
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs1553333599
rs1553333599
MSH6 ; FBXO11
TCTCCCAGAGGAAGTTATTCAAAA 0.700 GeneticVariation CLINVAR

dbSNP: rs1553333635
rs1553333635
MSH6 ; FBXO11
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553333753
rs1553333753
MSH6 ; FBXO11
ATTAT 0.700 GeneticVariation CLINVAR

dbSNP: rs1553414395
rs1553414395
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553414519
rs1553414519
MSH6 ; FBXO11
C 0.700 GeneticVariation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
dbSNP: rs1553414519
rs1553414519
MSH6 ; FBXO11
C 0.700 GeneticVariation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016