rs121434320

Merged into

rs28929484

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121434320(C;T)

Make rs121434320(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47475180

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs121434320
dbSNP (classic)	rs121434320
ClinGen	rs121434320
ebi	rs121434320
HLI	rs121434320
Exac	rs121434320
Gnomad	rs121434320
Varsome	rs121434320
LitVar	rs121434320
Map	rs121434320
PheGenI	rs121434320
Biobank	rs121434320
1000 genomes	rs121434320
hgdp	rs121434320
ensembl	rs121434320
geneview	rs121434320
scholar	rs121434320
google	rs121434320
pharmgkb	rs121434320
gwascentral	rs121434320
openSNP	rs121434320
23andMe	rs121434320
SNPshot	rs121434320
SNPdbe	rs121434320
MSV3d	rs121434320
GWAS Ctlg	rs121434320

Status

Merged into rs28929484

Max Magnitude

0

OMIM	609309
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434320(T;T)
Alt	rs121434320(T;T)
Reference	Rs121434320(C;C)
Significance	Pathogenic
Disease	Lynch syndrome I
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome I
Reversed	0
HGVS	NC_000002.11:g.47702319C>T
CLNSRC	OMIM Allelic Variant
CLNACC	SCV000021982.1,

[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.