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rs1805319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1805319(C;G)
Make rs1805319(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position5997349
GenePMS2
is asnp
is mentioned by
dbSNPrs1805319
ebirs1805319
HLIrs1805319
Exacrs1805319
Varsomers1805319
Maprs1805319
PheGenIrs1805319
hapmaprs1805319
1000 genomesrs1805319
hgdprs1805319
ensemblrs1805319
gopubmedrs1805319
geneviewrs1805319
scholarrs1805319
googlers1805319
pharmgkbrs1805319
gwascentralrs1805319
openSNPrs1805319
23andMers1805319
23andMe allrs1805319
SNP Nexus

SNPshotrs1805319
SNPdbers1805319
MSV3drs1805319
GWAS Ctlgrs1805319
Merged fromRs2228005, Rs6463524
GMAF0.157
Max Magnitude0
? (C;C) (C;G) (G;G) 28
ClinVar
Risk rs1805319(A,G,T;A,G,T)
Alt rs1805319(A,G,T;A,G,T)
Reference rs1805319(C;C)
Significance Probable-non-pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome not specified
Variation info
Gene PMS2
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome not specified
Reversed 1
HGVS NC_000007.13:g.6036980G>A; NC_000007.13:g.6036980G>C; NC_000007.13:g.6036980G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours Mayo Clinic
CLNACC RCV000162392.1, RCV000030372.3, RCV000079112.5, RCV000131484.2, RCV000229294.1,


[PMID 182681] Specific herpes simplex virus-induced incorporation of 5-iodo-5'-amino-2',5'-dideoxyuridine into deoxyribonucleic acid.


[PMID 8993976] Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.


[PMID 15256438] Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.


[PMID 16472587] Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).


[PMID 19132747] PMS2 involvement in patients suspected of Lynch syndrome.


[PMID 20205264] Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.