MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Torre-Muir syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749795
rs63749795
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		0.710 GeneticVariation BEFREE Having a high probability for MSI, she was found to be heterozygous for a germline point mutation in MSH2 gene, where a pathologic variant, c.1165C > T (p.Arg389*), determined by sequencing confirmed Muir-Torre syndrome (MTS). 29933315 2019
dbSNP: rs63749795
rs63749795
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.710 CausalMutation CLINVAR