chr13:113118998:C> 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	chr13:113,773,312-113,773,312
hg38	chr13:113,118,998-113,118,998

HGVS

F7

Type	Transcript	Protein
RefSeq	NM_019616.3:c.1325delC	NP_062562.1:p.Pro442HisfsTer32
	NM_000131.4:c.1391delC	NP_000122.1:p.Pro464HisfsTer32
	NM_001267554.1:c.1139delC	NP_001254483.1:p.Pro380HisfsTer32
	NR_051961.1:c.1139delC
Ensemble	ENST00000346342.8:c.1325delC	ENST00000346342.8:p.Pro442HisfsTer32
	ENST00000375581.3:c.1391delC	ENST00000375581.3:p.Pro464HisfsTer32
	ENST00000541084.5:c.1139delC	ENST00000541084.5:p.Pro380HisfsTer32

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
Likely pathogenic	2019-02-01	criteria provided, single submitter		unknown	Detail
Likely pathogenic	2019-09-11	criteria provided, multiple submitters, no conflicts	factor VII deficiency	germline unknown	Detail
Pathogenic Likely pathogenic	2023-03-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-10-30	no assertion criteria provided	Congenital factor VII deficiency	germline unknown	Detail
Likely pathogenic	2022-05-18	criteria provided, single submitter	Myocardial infarction, susceptibility to,Congenital factor VII deficiency	unknown	Detail
Likely pathogenic	2022-05-18	criteria provided, single submitter	Myocardial infarction, susceptibility to,Congenital factor VII deficiency	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_019616.4(F7):c.1325del (p.Pro442fs) AND Abnormal bleeding	ClinVar	Detail
NM_019616.4(F7):c.1325del (p.Pro442fs) AND Factor VII deficiency	ClinVar	Detail
NM_019616.4(F7):c.1325del (p.Pro442fs) AND not provided	ClinVar	Detail
NM_019616.4(F7):c.1325del (p.Pro442fs) AND Congenital factor VII deficiency	ClinVar	Detail
NM_019616.4(F7):c.1325del (p.Pro442fs) AND multiple conditions	ClinVar	Detail
NM_019616.4(F7):c.1325del (p.Pro442fs) AND multiple conditions	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: rs750457207 dbSNP
Genome: hg38
Position: chr13:113,118,998-113,118,998
Variant Type: snv
Reference Allele: C
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8278
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): 111336
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.389092476826902E-5

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