chr13:113118414:C>T Detail (hg38) (F7)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr13:113,772,728-113,772,728 View the variant detail on this assembly version.
hg38	chr13:113,118,414-113,118,414

HGVS

F7

Type	Transcript	Protein
RefSeq	NM_019616.3:c.741C>T	NP_062562.1:p.Gly247=
	NM_000131.4:c.807C>T	NP_000122.1:p.Gly269=
	NM_001267554.1:c.555C>T	NP_001254483.1:p.Gly185=
	NR_051961.1:c.555C>T
Ensemble	ENST00000346342.8:c.741C>T	ENST00000346342.8:p.Gly247=
	ENST00000375581.3:c.807C>T	ENST00000375581.3:p.Gly269=
	ENST00000541084.5:c.555C>T	ENST00000541084.5:p.Gly185=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

F7

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.048	myocardial infarction	None of the 9 polymorphisms of genes encoding proteins involved in coagulation (...	BeFree	12615788	Detail
0.007	myocardial infarction	None of the 9 polymorphisms of genes encoding proteins involved in coagulation (...	BeFree	12615788	Detail
0.069	myocardial infarction	None of the 9 polymorphisms of genes encoding proteins involved in coagulation (...	BeFree	12615788	Detail
0.003	myocardial infarction	None of the 9 polymorphisms of genes encoding proteins involved in coagulation (...	BeFree	12615788	Detail
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

Annotation

Annotations

Descrption	Source	Links
None of the 9 polymorphisms of genes encoding proteins involved in coagulation (G-455A beta-fibrinog...	DisGeNET	Detail
None of the 9 polymorphisms of genes encoding proteins involved in coagulation (G-455A beta-fibrinog...	DisGeNET	Detail
None of the 9 polymorphisms of genes encoding proteins involved in coagulation (G-455A beta-fibrinog...	DisGeNET	Detail
None of the 9 polymorphisms of genes encoding proteins involved in coagulation (G-455A beta-fibrinog...	DisGeNET	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

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: chr13:113,118,414-113,118,414
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8448
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 111766
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.947264821144176E-6

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