rs1805319
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1805319(C;G) |
| Make rs1805319(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 5997349 |
| Gene | PMS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805319 |
| dbSNP (classic) | rs1805319 |
| ClinGen | rs1805319 |
| ebi | rs1805319 |
| HLI | rs1805319 |
| Exac | rs1805319 |
| Gnomad | rs1805319 |
| Varsome | rs1805319 |
| LitVar | rs1805319 |
| Map | rs1805319 |
| PheGenI | rs1805319 |
| Biobank | rs1805319 |
| 1000 genomes | rs1805319 |
| hgdp | rs1805319 |
| ensembl | rs1805319 |
| geneview | rs1805319 |
| scholar | rs1805319 |
| rs1805319 | |
| pharmgkb | rs1805319 |
| gwascentral | rs1805319 |
| openSNP | rs1805319 |
| 23andMe | rs1805319 |
| SNPshot | rs1805319 |
| SNPdbe | rs1805319 |
| MSV3d | rs1805319 |
| GWAS Ctlg | rs1805319 |
| Merged from | Rs2228005 |
| GMAF | 0.157 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1805319(A;A) rs1805319(G;G) rs1805319(T;T) |
| Alt | rs1805319(A;A) rs1805319(G;G) rs1805319(T;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, RCV000030372.4, RCV000079112.6, RCV000131484.2, RCV000229294.2, RCV000428682.1, |
[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.
