MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Nonpolyposis Colorectal Cancer ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751608
rs63751608
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		0.710 GeneticVariation BEFREE Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction. 15864295 2005
dbSNP: rs63751608
rs63751608
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		C 0.710 GeneticVariation CLINVAR