chr7:5970925:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:6,010,556-6,048,753 |
| hg38 | chr7:5,970,925-6,009,122 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Colonic Neoplasms | NA | BeFree | Detail | |
| 0.003 | Colonic Polyps | NA | LHGDN | Detail | |
| 0.007 | colorectal carcinoma | Lynch syndrome is the most common inherited CRC syndrome and is associated with ... | BeFree | 23891921 | Detail |
| 0.007 | colorectal carcinoma | Approximately 12-17 % of CRCs demonstrate MSI with germline mutations in genes i... | BeFree | 25213678 | Detail |
| 0.007 | colorectal carcinoma | Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MS... | BeFree | 25238946 | Detail |
| 0.007 | colorectal carcinoma | In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more t... | BeFree | 25345868 | Detail |
| 0.007 | colorectal carcinoma | Validation cohort: FFPE samples from 154 patients with primary stage III CRC (or... | BeFree | 25777966 | Detail |
| 0.008 | Colorectal Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
| 0.133 | Hereditary nonpolyposis colorectal neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| 0.002 | Endometrial Neoplasms | NA | GAD | Detail | |
| <0.001 | Exanthema | NA | BeFree | Detail | |
| <0.001 | Friedreich ataxia | We propose that upregulation of MLH1 or PMS2 could be potential FRDA therapeutic... | BeFree | 24971578 | Detail |
| <0.001 | Gastrointestinal Neoplasms | NA | BeFree | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| 0.003 | Hyperaldosteronism | NA | LHGDN | Detail | |
| <0.001 | male infertility | NA | BeFree | Detail | |
| <0.001 | Alcoholic Liver Diseases | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| <0.001 | lupus nephritis | NA | BeFree | Detail | |
| 0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | medulloblastoma | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| 0.120 | Neoplasm Metastasis | NA | BeFree,CTD_human | Detail | |
| <0.001 | nephroblastoma | NA | BeFree | Detail | |
| <0.001 | oligospermia | NA | BeFree | Detail | |
| 0.001 | ovarian carcinoma | Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MS... | BeFree | 25238946 | Detail |
| <0.001 | Adenomatous Polyposis Coli | NA | BeFree | Detail | |
| 0.006 | Prostatic Neoplasms | NA | BeFree,LHGDN | Detail | |
| <0.001 | Protein Deficiency | NA | BeFree | Detail | |
| 0.120 | rhabdomyosarcoma | NA | BeFree,CTD_human | Detail | |
| 0.120 | Supratentorial Neoplasms | NA | CTD_human | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of duodenum | NA | BeFree | Detail | |
| <0.001 | Williams syndrome | NA | BeFree | Detail | |
| <0.001 | Undifferentiated carcinoma | NA | BeFree | Detail | |
| 0.120 | Neuroectodermal Tumor, Primitive | NA | CTD_human | Detail | |
| <0.001 | Adenoma, Villous | NA | BeFree | Detail | |
| <0.001 | sebaceous adenocarcinoma | Eighteen (56%) of the 32 specimens with SA or SC displayed MMR-protein deficienc... | BeFree | 25457183 | Detail |
| <0.001 | Carcinoma, Neuroendocrine | MSI analysis and immunohistochemistry for mismatch repair proteins (MLH1, MSH2, ... | BeFree | 25465415 | Detail |
| 0.120 | Cafe-au-Lait Spots | NA | CTD_human | Detail | |
| 0.003 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| 0.484 | Turcot syndrome (disorder) | A homozygous PMS2 founder mutation with an attenuated constitutional mismatch re... | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 25691505 | Detail |
| 0.484 | Turcot syndrome (disorder) | PMS2 and MSH6 loss covered 100% of cases with mismatch repair deficiency. | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 26619103 | Detail |
| <0.001 | Malignant Childhood Neoplasm | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of duodenum | NA | BeFree | Detail | |
| <0.001 | Conventional (Clear Cell) Renal Cell Carcinoma | Both decreased MLH1 and increased AKT levels induced lower PMS2, indicating that... | BeFree | 25528216 | Detail |
| <0.001 | Conventional (Clear Cell) Renal Cell Carcinoma | Increased activity of PI3K/AKT/PMS2 could play a role in SETD2 mutated ccRCC. | BeFree | 26537074 | Detail |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Multiple polyps | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoid tumor | MSI analysis and immunohistochemistry for mismatch repair proteins (MLH1, MSH2, ... | BeFree | 25465415 | Detail |
| <0.001 | intestinal cancer | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| 0.006 | endometrial carcinoma | The aims of this study were to define the prevalence and associations of deficie... | BeFree,GAD | 25272293 | Detail |
| 0.006 | endometrial carcinoma | Pentaplex mono and di-nucleotide PCR for MSI testing was compared to MMR IHC (pr... | BeFree,GAD | 25636458 | Detail |
| 0.006 | endometrial carcinoma | Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients Wit... | BeFree,GAD | 25871621 | Detail |
| <0.001 | Duodenal Cancer | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.003 | Epithelial ovarian cancer | The aim of this study was to estimate the contribution of deleterious mutations ... | BeFree,GAD | 24728189 | Detail |
| <0.001 | invasive cancer | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of gastrointestinal tract | NA | BeFree | Detail | |
| 0.003 | colon carcinoma | The most common hereditary colon cancer susceptibility condition, Lynch syndrome... | BeFree | 24051481 | Detail |
| <0.001 | Brain Tumor, Primary | NA | BeFree | Detail | |
| <0.001 | Spots on skin | NA | BeFree | Detail | |
| 0.003 | ovarian neoplasm | NA | LHGDN | Detail | |
| <0.001 | Polyp of large intestine | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of ovary | Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MS... | BeFree,GAD | 25238946 | Detail |
| 0.001 | sarcoma | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of large intestine | NA | BeFree | Detail | |
| <0.001 | Hereditary Malignant Neoplasm | NA | BeFree | Detail | |
| <0.001 | Thymic Lymphoma | NA | BeFree | Detail | |
| 0.029 | colorectal cancer | Lynch syndrome is the most common inherited CRC syndrome and is associated with ... | BeFree,GAD | 23891921 | Detail |
| 0.029 | colorectal cancer | Approximately 12-17 % of CRCs demonstrate MSI with germline mutations in genes i... | BeFree,GAD | 25213678 | Detail |
| 0.029 | colorectal cancer | Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MS... | BeFree,GAD | 25238946 | Detail |
| 0.029 | colorectal cancer | In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more t... | BeFree,GAD | 25345868 | Detail |
| 0.029 | colorectal cancer | Validation cohort: FFPE samples from 154 patients with primary stage III CRC (or... | BeFree,GAD | 25777966 | Detail |
| <0.001 | Rash and Dermatitis Adverse Event Associated with Chemoradiation | NA | BeFree | Detail | |
| 0.002 | uterine corpus cancer | The aims of this study were to define the prevalence and associations of deficie... | BeFree | 25272293 | Detail |
| <0.001 | MUTYH-Associate Polyposis | NA | BeFree | Detail | |
| <0.001 | Experimental Organism Basal Cell Carcinoma | NA | BeFree | Detail | |
| <0.001 | azoospermia | One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059... | BeFree | 22594646 | Detail |
| <0.001 | male infertility | Meanwhile, we also identified a possible contribution of PMS2 rs1059060 to the r... | BeFree | 22594646 | Detail |
| <0.001 | oligospermia | One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059... | BeFree | 22594646 | Detail |
| <0.001 | adenoma | NA | BeFree | Detail | |
| <0.001 | azoospermia | NA | BeFree | Detail | |
| 0.005 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| <0.001 | Brain Neoplasms | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| 0.004 | Malignant tumor of colon | The most common hereditary colon cancer susceptibility condition, Lynch syndrome... | BeFree | 24051481 | Detail |
| 0.002 | Malignant neoplasm of endometrium | The aims of this study were to define the prevalence and associations of deficie... | BeFree | 25272293 | Detail |
| <0.001 | Rectal Carcinoma | A case of early onset rectal cancer of Lynch syndrome with a novel deleterious P... | BeFree | 26232782 | Detail |
| <0.001 | mucinous adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lynch syndrome is the most common inherited CRC syndrome and is associated with mutations in DNA mis... | DisGeNET | Detail |
| Approximately 12-17 % of CRCs demonstrate MSI with germline mutations in genes involved in DNA misma... | DisGeNET | Detail |
| Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associa... | DisGeNET | Detail |
| In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more than 50 founder patho... | DisGeNET | Detail |
| Validation cohort: FFPE samples from 154 patients with primary stage III CRC (originally included in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We propose that upregulation of MLH1 or PMS2 could be potential FRDA therapeutic approaches to incre... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associa... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Eighteen (56%) of the 32 specimens with SA or SC displayed MMR-protein deficiency, comprising 17 (65... | DisGeNET | Detail |
| MSI analysis and immunohistochemistry for mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2) were ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phen... | DisGeNET | Detail |
| PMS2 and MSH6 loss covered 100% of cases with mismatch repair deficiency. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Both decreased MLH1 and increased AKT levels induced lower PMS2, indicating that MMR was mediated by... | DisGeNET | Detail |
| Increased activity of PI3K/AKT/PMS2 could play a role in SETD2 mutated ccRCC. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MSI analysis and immunohistochemistry for mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2) were ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aims of this study were to define the prevalence and associations of deficient mismatch repair (... | DisGeNET | Detail |
| Pentaplex mono and di-nucleotide PCR for MSI testing was compared to MMR IHC (presence/absence of ML... | DisGeNET | Detail |
| Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and End... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of this study was to estimate the contribution of deleterious mutations in BRCA1, BRCA2, MLH... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously kn... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associa... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lynch syndrome is the most common inherited CRC syndrome and is associated with mutations in DNA mis... | DisGeNET | Detail |
| Approximately 12-17 % of CRCs demonstrate MSI with germline mutations in genes involved in DNA misma... | DisGeNET | Detail |
| Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associa... | DisGeNET | Detail |
| In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more than 50 founder patho... | DisGeNET | Detail |
| Validation cohort: FFPE samples from 154 patients with primary stage III CRC (originally included in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aims of this study were to define the prevalence and associations of deficient mismatch repair (... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and ... | DisGeNET | Detail |
| Meanwhile, we also identified a possible contribution of PMS2 rs1059060 to the risk of male infertil... | DisGeNET | Detail |
| One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously kn... | DisGeNET | Detail |
| The aims of this study were to define the prevalence and associations of deficient mismatch repair (... | DisGeNET | Detail |
| A case of early onset rectal cancer of Lynch syndrome with a novel deleterious PMS2 mutation. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1059060 dbSNP
- Genome
- hg38
- Position
- chr7:5,970,925-6,009,122
- Variant Type
- snv
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