chr1:169549811:C>T Detail (hg38) (F5)

Information

Genome

Assembly Position
hg19 chr1:169,519,049-169,519,049 View the variant detail on this assembly version.
hg38 chr1:169,549,811-169,549,811

HGVS

Type Transcript Protein
RefSeq NM_000130.4:c.1601G>A NP_000121.2:p.Arg534Gln
Ensemble ENST00000367796.3:c.1601G>A ENST00000367796.3:p.Arg534Gln
ENST00000367797.9:c.1601G>A ENST00000367797.9:p.Arg534Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 612309 OMIM
HGNC 3542 HGNC
Ensembl ENSG00000198734 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3710551 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2006-06-15 no assertion criteria provided Ischemic stroke germline Detail
risk factor 2006-06-15 no assertion criteria provided Budd-Chiari syndrome, susceptibility to germline Detail
risk factor 2006-06-15 no assertion criteria provided Pregnancy loss, recurrent, susceptibility to, 1 germline Detail
Pathogenic; risk factor 2020-03-04 criteria provided, multiple submitters, no conflicts factor V deficiency germline maternal Detail
Conflicting interpretations of pathogenicity 2024-03-29 criteria provided, conflicting interpretations thrombophilia due to activated protein C resistance germline maternal unknown Detail
Pathogenic 2021-02-22 criteria provided, single submitter not specified germline Detail
Pathogenic criteria provided, single submitter factor V deficiency,thrombophilia due to activated protein C resistance germline Detail
Pathogenic criteria provided, single submitter factor V deficiency,thrombophilia due to activated protein C resistance germline Detail
Uncertain significance 2021-06-29 no assertion criteria provided Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process germline Detail
Pathogenic 2018-01-23 criteria provided, single submitter Inborn genetic diseases germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Pathogenic 2024-02-06 criteria provided, single submitter not provided germline Detail
Pathogenic 2024-01-31 criteria provided, single submitter Congenital factor V deficiency germline 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
0.036 protein S deficiency We investigated the prevalence of the factor V Leiden (F5 rs6025) and prothrombi... BeFree 22198364 Detail
0.019 Factor V Leiden mutation SNP in these genes showed association with venous thrombosis risk in whites: MTH... BeFree 22707612 Detail
0.082 Factor V Leiden mutation SNP in the following genes demonstrated association with thrombosis risk overall... BeFree 22707612 Detail
0.355 Venous thromboembolism Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two suscep... GWASCAT 25772935 Detail
0.082 Factor V Leiden mutation Venous thrombosis with both heterozygous factor V Leiden (R507Q) and factor II (... BeFree 23330508 Detail
0.355 Venous thromboembolism A genome-wide association study of venous thromboembolism identifies risk varian... GWASCAT 22672568 Detail
<0.001 Activated Protein C Resistance Furthermore, high levels of factor IX and low levels of free protein S were asso... BeFree 23015030 Detail
0.035 Deep Vein Thrombosis Women carrying the factor V Leiden (F5 rs6025) polymorphism, or who had reduced ... BeFree 23015030 Detail
<0.001 pulmonary embolism Furthermore, high levels of factor IX and low levels of free protein S were asso... BeFree 23015030 Detail
0.001 Deep Vein Thrombosis Furthermore, high levels of factor IX and low levels of free protein S were asso... BeFree 23015030 Detail
0.120 thrombophilia Factor V Leiden (R507Q) and factor II (prothrombin) mutation (G20210A) are the t... BeFree 23330508 Detail
0.192 Abortion, Habitual NA CLINVAR Detail
<0.001 Deep thrombophlebitis Furthermore, high levels of factor IX and low levels of free protein S were asso... BeFree 23015030 Detail
0.004 Deep thrombophlebitis Women carrying the factor V Leiden (F5 rs6025) polymorphism, or who had reduced ... BeFree 23015030 Detail
<0.001 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) Furthermore, high levels of factor IX and low levels of free protein S were asso... BeFree 23015030 Detail
0.026 Sepsis [FVL carrier status did not predict either susceptibility to or outcome from Gra... GAD 20202226 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Ischemic stroke ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Budd-Chiari syndrome, susceptibility to ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Pregnancy loss, recurrent, susceptibility to, 1 ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Factor V deficiency ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Thrombophilia due to activated protein C resistance ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND not specified ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND multiple conditions ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND multiple conditions ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Susceptibility to severe coronavirus disease (COVID-19) ... ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Inborn genetic diseases ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND hormonal contraceptives for systemic use response - Toxi... ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND not provided ClinVar Detail
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Congenital factor V 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
We investigated the prevalence of the factor V Leiden (F5 rs6025) and prothrombin gene G20210A (F2 r... DisGeNET Detail
SNP in these genes showed association with venous thrombosis risk in whites: MTHFR rs1801131 (OR 1.5... DisGeNET Detail
SNP in the following genes demonstrated association with thrombosis risk overall in the discovery or... DisGeNET Detail
Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for ve... DisGeNET Detail
Venous thrombosis with both heterozygous factor V Leiden (R507Q) and factor II (G20210A) mutations. DisGeNET Detail
A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q... DisGeNET Detail
Furthermore, high levels of factor IX and low levels of free protein S were associated with increase... DisGeNET Detail
Women carrying the factor V Leiden (F5 rs6025) polymorphism, or who had reduced sensitivity to activ... DisGeNET Detail
Furthermore, high levels of factor IX and low levels of free protein S were associated with increase... DisGeNET Detail
Furthermore, high levels of factor IX and low levels of free protein S were associated with increase... DisGeNET Detail
Factor V Leiden (R507Q) and factor II (prothrombin) mutation (G20210A) are the two most common inher... DisGeNET Detail
NA DisGeNET Detail
Furthermore, high levels of factor IX and low levels of free protein S were associated with increase... DisGeNET Detail
Women carrying the factor V Leiden (F5 rs6025) polymorphism, or who had reduced sensitivity to activ... DisGeNET Detail
Furthermore, high levels of factor IX and low levels of free protein S were associated with increase... DisGeNET Detail
[FVL carrier status did not predict either susceptibility to or outcome from Gram negative, Escheric... 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
rs6025 dbSNP
Genome
hg38
Position
chr1:169,549,811-169,549,811
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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