MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41542214
rs41542214
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs41542214
rs41542214
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529 2010
dbSNP: rs41542214
rs41542214
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. 16338176 2006
dbSNP: rs41542214
rs41542214
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability. 14985405 2004
dbSNP: rs41542214
rs41542214
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. 12799449 2003
dbSNP: rs41542214
rs41542214
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663 2003
dbSNP: rs41542214
rs41542214
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702 1998
dbSNP: rs41542214
rs41542214
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Mutation of a mutL homolog in hereditary colon cancer. 8128251 1994