rs28929484

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	Lynch syndrome, pathogenic mutation

Make rs28929484(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47475180

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs28929484
dbSNP (classic)	rs28929484
ClinGen	rs28929484
ebi	rs28929484
HLI	rs28929484
Exac	rs28929484
Gnomad	rs28929484
Varsome	rs28929484
LitVar	rs28929484
Map	rs28929484
PheGenI	rs28929484
Biobank	rs28929484
1000 genomes	rs28929484
hgdp	rs28929484
ensembl	rs28929484
geneview	rs28929484
scholar	rs28929484
google	rs28929484
pharmgkb	rs28929484
gwascentral	rs28929484
openSNP	rs28929484
23andMe	rs28929484
SNPshot	rs28929484
SNPdbe	rs28929484
MSV3d	rs28929484
GWAS Ctlg	rs28929484

Merged from

Rs121434320

Max Magnitude

6

ClinVar
Risk	rs28929484(T;T)
Alt	rs28929484(T;T)
Reference	Rs28929484(C;C)
Significance	Pathogenic
Disease	Lynch syndrome I Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome I Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000002.11:g.47702319C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001826.2, RCV000030246.3, RCV000202104.1, RCV000491611.1,

[PMID 8062247] hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.

[PMID 8261515] Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.

[PMID 9630599] Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiae.

[PMID 9718327] Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.

[PMID 14518068] Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.

[PMID 16395668] Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.