chr13:113115708:A>G 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	chr13:113,770,022-113,770,022 View the variant detail on this assembly version.
hg38	chr13:113,115,708-113,115,708

HGVS

F7

Type	Transcript	Protein
RefSeq	NM_019616.3:c.413A>G	NP_062562.1:p.Gln138Arg
	NM_000131.4:c.479A>G	NP_000122.1:p.Gln160Arg
	NM_001267554.1:c.227A>G	NP_001254483.1:p.Gln76Arg
	NR_051961.1:c.227A>G
Ensemble	ENST00000346342.8:c.413A>G	ENST00000346342.8:p.Gln138Arg
	ENST00000375581.3:c.479A>G	ENST00000375581.3:p.Gln160Arg
	ENST00000541084.5:c.227A>G	ENST00000541084.5:p.Gln76Arg

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	Pathogenic Likely pathogenic
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-02-01	criteria provided, multiple submitters, no conflicts	factor VII deficiency	germline unknown	Detail
Likely pathogenic		criteria provided, single submitter	Congenital factor VII deficiency	unknown	Detail
Likely pathogenic	2022-05-11	criteria provided, single submitter	Myocardial infarction, susceptibility to,Congenital factor VII deficiency	unknown	Detail
Likely pathogenic	2022-05-11	criteria provided, single submitter	Myocardial infarction, susceptibility to,Congenital factor VII deficiency	unknown	Detail
Pathogenic	2022-10-19	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_019616.4(F7):c.413A>G (p.Gln138Arg) AND Factor VII deficiency	ClinVar	Detail
NM_019616.4(F7):c.413A>G (p.Gln138Arg) AND Congenital factor VII deficiency	ClinVar	Detail
NM_019616.4(F7):c.413A>G (p.Gln138Arg) AND multiple conditions	ClinVar	Detail
NM_019616.4(F7):c.413A>G (p.Gln138Arg) AND multiple conditions	ClinVar	Detail
NM_019616.4(F7):c.413A>G (p.Gln138Arg) AND not provided	ClinVar	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: rs200016360 dbSNP
Genome: hg38
Position: chr13:113,115,708-113,115,708
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8516
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): 116288
Allele Counts in All Race (ExAC): 16
Heterozygous Counts in All Race (ExAC): 16
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.375894331315355E-4

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