chr13:113118731:G>A Detail (hg38) (F7)

Information

Genome

Assembly Position
hg19 chr13:113,773,045-113,773,045 View the variant detail on this assembly version.
hg38 chr13:113,118,731-113,118,731

HGVS

Type Transcript Protein
RefSeq NM_019616.3:c.1058G>A NP_062562.1:p.Arg353Gln
NM_000131.4:c.1124G>A NP_000122.1:p.Arg375Gln
NM_001267554.1:c.872G>A NP_001254483.1:p.Arg291Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.001
ToMMo:0.002
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 613878 OMIM
HGNC 3544 HGNC
Ensembl ENSG00000057593 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv49949733 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-11-18 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 acute myocardial infarction Associations of the known polymorphisms of the coagulation factor VII (FVII) gen... BeFree 12486862 Detail
<0.001 acute myocardial infarction Associations of the known polymorphisms of the coagulation factor VII (FVII) gen... BeFree 12486862 Detail
0.007 WARFARIN SENSITIVITY (disorder) Factor VII R353Q genetic polymorphism is associated with altered warfarin sensit... BeFree 22071881 Detail
0.017 Cerebrovascular accident Thus, we investigated the association between lacunar stroke and the FVII R353Q ... BeFree 9491271 Detail
0.055 WARFARIN SENSITIVITY (disorder) Factor VII R353Q genetic polymorphism is associated with altered warfarin sensit... BeFree 22071881 Detail
0.024 Coronary heart disease Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII c... BeFree 20086294 Detail
0.048 myocardial infarction The presence of the Gln allele in the Arg353Gln polymorphism in the FVII locus d... BeFree 17581323 Detail
0.003 Acute coronary syndrome Factor VII levels, R353Q and -323P0/10 Factor VII variants, and the risk of acut... BeFree 23275237 Detail
0.024 Coronary heart disease Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms t... BeFree 22932775 Detail
0.001 Factor V Leiden mutation Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V... BeFree 17003923 Detail
0.014 Cardiovascular Diseases In order to determine the role of two polymorphisms in the factor VII gene (R353... BeFree 11578716 Detail
0.014 Cardiovascular Diseases The combined RQ and RR genotypes of factor VII R353Q were correlated to a reduce... BeFree 11397354 Detail
0.001 Factor V Leiden mutation Individuals belonging to six different Amerindian tribes and two African groups ... BeFree 14689519 Detail
<0.001 Factor V Leiden mutation Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V... BeFree 17003923 Detail
0.001 acute myocardial infarction In order to determine the role of two polymorphisms in the factor VII gene (R353... BeFree 11578716 Detail
0.019 Factor V Leiden mutation Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V... BeFree 17003923 Detail
0.080 diabetes mellitus To examine the R353Q polymorphism of the FVII gene and the relation to myocardia... BeFree 15081566 Detail
0.015 coronary artery disease Association between R353Q polymorphism for coagulative factor VII and severity o... BeFree 24469878 Detail
0.023 Coronary Arteriosclerosis The aim of the study was to assess whether Factor VII polymorphism R353Q is asso... BeFree 15837082 Detail
0.023 Coronary Arteriosclerosis Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms t... BeFree 22932775 Detail
0.024 Coronary heart disease Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospho... BeFree 15081566 Detail
<0.001 Factor V Leiden mutation Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V... BeFree 17003923 Detail
0.462 myocardial infarction Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... BeFree 18457169 Detail
0.015 coronary artery disease The factor II(G20210A) ,V(G1691A) mutation is absent and may not be a major gene... BeFree 12765295 Detail
0.024 Coronary heart disease Association between R353Q polymorphism for coagulative factor VII and severity o... BeFree 24469878 Detail
0.088 Diabetes Mellitus, Non-Insulin-Dependent Genetic influence of the R/Q353 genotype on factor VII activity is overwhelmed b... BeFree 9686915 Detail
0.019 Factor V Leiden mutation Individuals belonging to six different Amerindian tribes and two African groups ... BeFree 14689519 Detail
<0.001 Factor V Leiden mutation Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V... BeFree 17003923 Detail
0.023 Coronary Arteriosclerosis Factor VII, blood lipids and fat intake: gene-nutrient interaction and risk of c... BeFree 18398422 Detail
0.048 myocardial infarction The prevalence of the beta-fibrinogen -455G/A and -148C/T, and the factor VII 10... BeFree 16049588 Detail
0.023 Coronary Arteriosclerosis Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospho... BeFree 15081566 Detail
<0.001 Stable angina A protective contribution of the Q allele of the R353Q polymorphism of the Facto... BeFree 15837082 Detail
0.005 Factor V Leiden mutation Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V... BeFree 17003923 Detail
0.082 Factor V Leiden mutation Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... BeFree 18457169 Detail
0.048 myocardial infarction Factor VII Arg/Gln353 polymorphism determines factor VII coagulant activity in p... BeFree 8929253 Detail
0.022 Myocardial Ischemia The R353Q genotype is a major determinant of factor VII coagulant (FVIIc) activi... BeFree 9989683 Detail
0.006 obesity Weight-loss induced changes in plasma factor VII coagulant activity and relation... BeFree 9569193 Detail
<0.001 Factor V Leiden mutation Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V... BeFree 17003923 Detail
0.017 Cerebrovascular accident Circulating levels of Factor VII:C are determined by R353Q genotype and cluster ... BeFree 12529745 Detail
0.048 myocardial infarction The factor II(G20210A) ,V(G1691A) mutation is absent and may not be a major gene... BeFree 12765295 Detail
0.015 coronary artery disease Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII c... BeFree 20086294 Detail
<0.001 Dyslipidemias The objective of this study was to verify whether the factor VII R353Q polymorph... BeFree 12851844 Detail
0.005 Factor V Leiden mutation Individuals belonging to six different Amerindian tribes and two African groups ... BeFree 14689519 Detail
0.069 myocardial infarction Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... BeFree 18457169 Detail
0.024 Coronary heart disease The aim of the study was to assess whether Factor VII polymorphism R353Q is asso... BeFree 15837082 Detail
<0.001 Obesity, Visceral Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B leve... BeFree 12851844 Detail
0.048 myocardial infarction Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... BeFree 18457169 Detail
0.005 Factor V Leiden mutation Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... BeFree 18457169 Detail
0.001 Obesity, Visceral Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B leve... BeFree 12851844 Detail
0.082 Factor V Leiden mutation Individuals belonging to six different Amerindian tribes and two African groups ... BeFree 14689519 Detail
0.048 myocardial infarction R353Q polymorphism, activated factor VII, and risk of premature myocardial infar... BeFree 15170085 Detail
0.024 Coronary heart disease Factor VII, blood lipids and fat intake: gene-nutrient interaction and risk of c... BeFree 18398422 Detail
0.023 Coronary Arteriosclerosis Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII c... BeFree 20086294 Detail
0.197 myocardial infarction Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... BeFree 18457169 Detail
0.023 Coronary Arteriosclerosis Association between R353Q polymorphism for coagulative factor VII and severity o... BeFree 24469878 Detail
0.015 coronary artery disease Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms t... BeFree 22932775 Detail
0.048 myocardial infarction To examine the R353Q polymorphism of the FVII gene and the relation to myocardia... BeFree 15081566 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_019616.4(F7):c.1058G>A (p.Arg353Gln) AND Inborn genetic diseases ClinVar Detail
Associations of the known polymorphisms of the coagulation factor VII (FVII) gene (R353Q), the coagu... DisGeNET Detail
Associations of the known polymorphisms of the coagulation factor VII (FVII) gene (R353Q), the coagu... DisGeNET Detail
Factor VII R353Q genetic polymorphism is associated with altered warfarin sensitivity among CYP2C9 *... DisGeNET Detail
Thus, we investigated the association between lacunar stroke and the FVII R353Q polymorphism in 137 ... DisGeNET Detail
Factor VII R353Q genetic polymorphism is associated with altered warfarin sensitivity among CYP2C9 *... DisGeNET Detail
Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII coagulant activity in... DisGeNET Detail
The presence of the Gln allele in the Arg353Gln polymorphism in the FVII locus did not differ betwee... DisGeNET Detail
Factor VII levels, R353Q and -323P0/10 Factor VII variants, and the risk of acute coronary syndrome ... DisGeNET Detail
Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms to coronary artery di... DisGeNET Detail
Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V 4070A&gt;G (factor ... DisGeNET Detail
In order to determine the role of two polymorphisms in the factor VII gene (R353Q and intron 7 hyper... DisGeNET Detail
The combined RQ and RR genotypes of factor VII R353Q were correlated to a reduced risk for CVD in 2,... DisGeNET Detail
Individuals belonging to six different Amerindian tribes and two African groups of Costa Rica were g... DisGeNET Detail
Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V 4070A&gt;G (factor ... DisGeNET Detail
In order to determine the role of two polymorphisms in the factor VII gene (R353Q and intron 7 hyper... DisGeNET Detail
Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V 4070A&gt;G (factor ... DisGeNET Detail
To examine the R353Q polymorphism of the FVII gene and the relation to myocardial infarction (MI), c... DisGeNET Detail
Association between R353Q polymorphism for coagulative factor VII and severity of coronary artery di... DisGeNET Detail
The aim of the study was to assess whether Factor VII polymorphism R353Q is associated with the exte... DisGeNET Detail
Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms to coronary artery di... DisGeNET Detail
Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospholipids in males at h... DisGeNET Detail
Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V 4070A&gt;G (factor ... DisGeNET Detail
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... DisGeNET Detail
The factor II(G20210A) ,V(G1691A) mutation is absent and may not be a major genetic factor for CAD a... DisGeNET Detail
Association between R353Q polymorphism for coagulative factor VII and severity of coronary artery di... DisGeNET Detail
Genetic influence of the R/Q353 genotype on factor VII activity is overwhelmed by environmental fact... DisGeNET Detail
Individuals belonging to six different Amerindian tribes and two African groups of Costa Rica were g... DisGeNET Detail
Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V 4070A&gt;G (factor ... DisGeNET Detail
Factor VII, blood lipids and fat intake: gene-nutrient interaction and risk of coronary heart diseas... DisGeNET Detail
The prevalence of the beta-fibrinogen -455G/A and -148C/T, and the factor VII 10 bp 5' promoter inse... DisGeNET Detail
Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospholipids in males at h... DisGeNET Detail
A protective contribution of the Q allele of the R353Q polymorphism of the Factor VII gene in indivi... DisGeNET Detail
Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V 4070A&gt;G (factor ... DisGeNET Detail
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... DisGeNET Detail
Factor VII Arg/Gln353 polymorphism determines factor VII coagulant activity in patients with myocard... DisGeNET Detail
The R353Q genotype is a major determinant of factor VII coagulant (FVIIc) activity, which is associa... DisGeNET Detail
Weight-loss induced changes in plasma factor VII coagulant activity and relation to the factor VII A... DisGeNET Detail
Variants of coagulation factors [factor V 1691G&gt;A (factor V Leiden), factor V 4070A&gt;G (factor ... DisGeNET Detail
Circulating levels of Factor VII:C are determined by R353Q genotype and cluster with other risk fact... DisGeNET Detail
The factor II(G20210A) ,V(G1691A) mutation is absent and may not be a major genetic factor for CAD a... DisGeNET Detail
Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII coagulant activity in... DisGeNET Detail
The objective of this study was to verify whether the factor VII R353Q polymorphism contributes to p... DisGeNET Detail
Individuals belonging to six different Amerindian tribes and two African groups of Costa Rica were g... DisGeNET Detail
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... DisGeNET Detail
The aim of the study was to assess whether Factor VII polymorphism R353Q is associated with the exte... DisGeNET Detail
Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B levels: impact of viscer... DisGeNET Detail
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... DisGeNET Detail
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... DisGeNET Detail
Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B levels: impact of viscer... DisGeNET Detail
Individuals belonging to six different Amerindian tribes and two African groups of Costa Rica were g... DisGeNET Detail
R353Q polymorphism, activated factor VII, and risk of premature myocardial infarction in Japanese me... DisGeNET Detail
Factor VII, blood lipids and fat intake: gene-nutrient interaction and risk of coronary heart diseas... DisGeNET Detail
Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII coagulant activity in... DisGeNET Detail
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... DisGeNET Detail
Association between R353Q polymorphism for coagulative factor VII and severity of coronary artery di... DisGeNET Detail
Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms to coronary artery di... DisGeNET Detail
To examine the R353Q polymorphism of the FVII gene and the relation to myocardial infarction (MI), c... 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
-
Genome
hg38
Position
chr13:113,118,731-113,118,731
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
158.73
Standard deviation of sample read depth (HGVD)
75.85
Number of reference allele (HGVD)
2417
Number of alternative allele (HGVD)
3
Allele Frequency (HGVD)
0.0012396694214876034
Gene Symbol (HGVD)
F7
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs201058276
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0023
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
38
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
East Asian Chromosome Counts (ExAC)
8548
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.169864295741694E-4
Chromosome Counts in All Race (ExAC)
117810
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.9417706476530004E-5
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