rs63750710

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	6	Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(C;C)	6	Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)

Reference

GRCh38 38.1/141

Chromosome

3

Position

37020411

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63750710
dbSNP (classic)	rs63750710
ClinGen	rs63750710
ebi	rs63750710
HLI	rs63750710
Exac	rs63750710
Gnomad	rs63750710
Varsome	rs63750710
LitVar	rs63750710
Map	rs63750710
PheGenI	rs63750710
Biobank	rs63750710
1000 genomes	rs63750710
hgdp	rs63750710
ensembl	rs63750710
geneview	rs63750710
scholar	rs63750710
google	rs63750710
pharmgkb	rs63750710
gwascentral	rs63750710
openSNP	rs63750710
23andMe	rs63750710
SNPshot	rs63750710
SNPdbe	rs63750710
MSV3d	rs63750710
GWAS Ctlg	rs63750710

Max Magnitude

6

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 23788249 ]

See also OMIM 120436.0008

OMIM	120436
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs63750710(C;C)
Alt	Rs63750710(C;C)
Reference	Rs63750710(A;A)
Significance	Pathogenic
Disease	Lynch syndrome II Lynch syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome II Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000003.11:g.37061902A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018614.27, RCV000075954.2, RCV000215121.1,