chr11:46761055:G>A Detail (hg19) (F2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:46,761,055-46,761,055 |
| hg38 | chr11:46,739,505-46,739,505 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000506.4:c.*97G>A | |
| NM_001311257.1:c.*97G>A | ||
| Ensemble | ENST00000311907.10:c.*97G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity; risk factor |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2023-07-27 | criteria provided, multiple submitters, no conflicts | thrombophilia due to thrombin defect |
germline
paternal
unknown
|
Detail |
risk factor
|
2009-06-17 | no assertion criteria provided | Ischemic stroke |
germline
|
Detail |
Uncertain significance
|
2019-06-21 | criteria provided, single submitter | Pregnancy loss, recurrent, susceptibility to, 2 |
germline
unknown
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-01-31 | criteria provided, conflicting interpretations | Congenital prothrombin deficiency |
germline
unknown
|
Detail |
|
risk factor
|
2019-12-04 | criteria provided, single submitter | Venous thromboembolism |
germline
|
Detail |
|
Pathogenic
|
2024-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
risk factor
|
2021-06-10 | criteria provided, single submitter |
unknown
|
Detail | |
| Established risk allele | no assertion criteria provided | Thrombophilia caused by F2 prothrombin deficiency |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.107 | colorectal cancer | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| 0.011 | colorectal cancer | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| 0.004 | colorectal carcinoma | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| 0.005 | colorectal cancer | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| <0.001 | colorectal carcinoma | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| 0.026 | colorectal carcinoma | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| 0.120 | Pregnancy loss, recurrent, susceptibility to, 2 | NA | CLINVAR | Detail | |
| <0.001 | Myoclonic Epilepsy, Juvenile | Lack of association between the prothrombin rs1799963 polymorphism and juvenile ... | BeFree | 25992517 | Detail |
| 0.308 | Venous thromboembolism | Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two suscep... | GWASCAT | 25772935 | Detail |
| 0.036 | protein S deficiency | We investigated the prevalence of the factor V Leiden (F5 rs6025) and prothrombi... | BeFree | 22198364 | Detail |
| 0.302 | thrombosis | [ The results demonstrated that Sao Miguel islanders have increased genetic pred... | GAD | 19538716 | Detail |
| 0.427 | thrombophilia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000506.5(F2):c.*97G>A AND Thrombophilia due to thrombin defect | ClinVar | Detail |
| NM_000506.5(F2):c.*97G>A AND Ischemic stroke | ClinVar | Detail |
| NM_000506.5(F2):c.*97G>A AND Pregnancy loss, recurrent, susceptibility to, 2 | ClinVar | Detail |
| NM_000506.5(F2):c.*97G>A AND Congenital prothrombin deficiency | ClinVar | Detail |
| NM_000506.5(F2):c.*97G>A AND Venous thromboembolism | ClinVar | Detail |
| NM_000506.5(F2):c.*97G>A AND not provided | ClinVar | Detail |
| NM_000506.5(F2):c.*97G>A AND Cerebral palsy | ClinVar | Detail |
| NM_000506.5(F2):c.*97G>A AND Thrombophilia caused by F2 prothrombin deficiency | ClinVar | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy. | DisGeNET | Detail |
| Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for ve... | DisGeNET | Detail |
| We investigated the prevalence of the factor V Leiden (F5 rs6025) and prothrombin gene G20210A (F2 r... | DisGeNET | Detail |
| [ The results demonstrated that Sao Miguel islanders have increased genetic predisposition to thromb... | 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
- rs1799963 dbSNP
- Genome
- hg19
- Position
- chr11:46,761,055-46,761,055
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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