chr4:83310887:G>A Detail (hg38) (HPSE)

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

Genome

Assembly	Position
hg19	chr4:84,232,040-84,232,040 View the variant detail on this assembly version.
hg38	chr4:83,310,887-83,310,887

HGVS

HPSE

Type	Transcript	Protein
RefSeq	NM_001098540.2:c.677C>T	NP_001092010.1:p.Pro226Leu
	NM_006665.5:c.677C>T	NP_006656.2:p.Pro226Leu
	NM_001166498.2:c.677C>T	NP_001159970.1:p.Pro226Leu
	NM_001199830.1:c.503C>T	NP_001186759.1:p.Pro168Leu
Ensemble	ENST00000311412.10:c.677C>T	ENST00000311412.10:p.Pro226Leu
	ENST00000405413.6:c.677C>T	ENST00000405413.6:p.Pro226Leu
	ENST00000512196.5:c.677C>T	ENST00000512196.5:p.Pro226Leu
	ENST00000513463.1:c.503C>T	ENST00000513463.1:p.Pro168Leu
	ENST00000681769.1:c.677C>T	ENST00000681769.1:p.Pro226Leu

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

HPSE

Type	Database	ID	Link
Gene	MIM	604724	OMIM
	HGNC	5164	HGNC
	Ensembl	ENSG00000173083	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
<0.001	Factor V Leiden mutation	DNA from leukocytes was tested for: factor V Leiden (mutation G1691A), factor V ...	BeFree	19395327	Detail
0.019	Factor V Leiden mutation	DNA from leukocytes was tested for: factor V Leiden (mutation G1691A), factor V ...	BeFree	19395327	Detail

Annotation

Annotations

Descrption	Source	Links
DNA from leukocytes was tested for: factor V Leiden (mutation G1691A), factor V R2 (H1299R), factor ...	DisGeNET	Detail
DNA from leukocytes was tested for: factor V Leiden (mutation G1691A), factor V R2 (H1299R), factor ...	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: chr4:83,310,887-83,310,887
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8620
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): 120546
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): 8.295588406085643E-6

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