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
Links
Type Database ID Link
Gene MIM 176930 OMIM
HGNC 3535 HGNC
Ensembl ENSG00000180210 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;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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