Have questions? Visit https://www.reddit.com/r/SNPedia

rs63751221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(T;T) 6 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
ReferenceGRCh38 38.1/141
Chromosome3
Position37001045
GeneMLH1
is asnp
is mentioned by
dbSNPrs63751221
dbSNP (old)rs63751221
ClinGenrs63751221
ebirs63751221
HLIrs63751221
Exacrs63751221
Varsomers63751221
Maprs63751221
PheGenIrs63751221
Biobankrs63751221
1000 genomesrs63751221
hgdprs63751221
ensemblrs63751221
gopubmedrs63751221
geneviewrs63751221
scholarrs63751221
googlers63751221
pharmgkbrs63751221
gwascentralrs63751221
openSNPrs63751221
23andMers63751221
23andMe allrs63751221
SNP Nexus

SNPshotrs63751221
SNPdbers63751221
MSV3drs63751221
GWAS Ctlgrs63751221
Merged fromRs193922369
Max Magnitude6

rs63751221 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 10995807]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]


ClinVar
Risk Rs63751221(T;T)
Alt Rs63751221(T;T)
Reference Rs63751221(C;C)
Significance Pathogenic
Disease Lynch syndrome not provided
Variation info
Gene MLH1
CLNDBN Lynch syndrome not provided
Reversed 0
HGVS NC_000003.11:g.37042536C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000030223.3, RCV000220956.1,



[PMID 10480359] Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.


[PMID 14512394] Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer.


[PMID 15235038OA-icon.png] Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.


[PMID 15872200] Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).


[PMID 18415027] Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.