Variant: rs63750648 

    present in Gene: EPM2AIP1;MLH1
    present in Chromosome: 3
    Position on Chromosome: 36993602
    Alleles of this Variant: A/T

rs63750648 in EPM2AIP1;MLH1 gene and Hereditary Non-Polyposis Colon Cancer Type 2 PMID 9311737 1997 Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.

PMID 9559627 1998 Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.

PMID 9833759 1998 Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.

PMID 11748856 2001 Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.

PMID 11781295 2002 Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.

PMID 11726306 2001 Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

PMID 8872463 1996 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.

PMID 9326924 1997 A human compound heterozygote for two MLH1 missense mutations.

PMID 10598809 1999 Missense mutations in hMLH1 associated with colorectal cancer.

PMID 10375096 1999 Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.

PMID 20020535 2010 A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

PMID 10627141 1998 Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.

PMID 8993976 1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.

PMID 8797773 1996 Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.

PMID 15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

PMID 11793442 2002 Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.

PMID 22753075 2012 Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

PMID 8571956 1996 Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.

PMID 11839723 2002 Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

rs63750648 in EPM2AIP1;MLH1 gene and Hereditary Nonpolyposis Colorectal Cancer PMID 12537657 2002 An intronic polymorphism of the hMLH1 gene contributes toward incomplete genetic testing for HNPCC.

PMID 18383312 2008 Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

PMID 20864636 2010 A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

PMID 12362047 2002 Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

rs63750648 in EPM2AIP1;MLH1 gene and Neoplastic Syndromes, Hereditary PMID 12362047 2002 Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

PMID 20864636 2010 A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

PMID 12537657 2002 An intronic polymorphism of the hMLH1 gene contributes toward incomplete genetic testing for HNPCC.

PMID 15475387 2004 Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.