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rs63750710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(C;C) 6 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
ReferenceGRCh38 38.1/141
Chromosome3
Position37020411
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750710
ebirs63750710
HLIrs63750710
Exacrs63750710
Varsomers63750710
Maprs63750710
PheGenIrs63750710
hapmaprs63750710
1000 genomesrs63750710
hgdprs63750710
ensemblrs63750710
gopubmedrs63750710
geneviewrs63750710
scholarrs63750710
googlers63750710
pharmgkbrs63750710
gwascentralrs63750710
openSNPrs63750710
23andMers63750710
23andMe allrs63750710
SNP Nexus

SNPshotrs63750710
SNPdbers63750710
MSV3drs63750710
GWAS Ctlgrs63750710
Max Magnitude6

rs63750710, also known as c.986A>C, p.His329Pro and H329P, is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 9272156]

This variant, deemed pathogenic in ClinVar by multiple submitters for hereditary nonpolyposis colon cancer, 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]

See also OMIM 120436.0008

OMIM120436
Desc
Variant0008
Relatedalso


ClinVar
Risk rs63750710(C;C)
Alt rs63750710(C;C)
Reference rs63750710(A;A)
Significance Pathogenic
Disease Lynch syndrome II Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MLH1
CLNDBN Lynch syndrome II Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000003.11:g.37061902A>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000018614.27, RCV000075954.2, RCV000215121.1,