chr4:186280258:T>C Detail (hg38) (F11)

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

Genome

Assembly	Position
hg19	chr4:187,201,412-187,201,412 View the variant detail on this assembly version.
hg38	chr4:186,280,258-186,280,258

HGVS

F11

Type	Transcript	Protein
RefSeq	NM_000128.3:c.901T>C	NP_000119.1:p.Phe301Leu
Ensemble	ENST00000403665.7:c.901T>C	ENST00000403665.7:p.Phe301Leu

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
Review star
Show details

Links

F11

Type	Database	ID	Link
Gene	MIM	264900	OMIM
	HGNC	3529	HGNC
	Ensembl	ENSG00000088926	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	2024-01-03	criteria provided, multiple submitters, no conflicts	Hereditary factor XI deficiency disease	germline unknown	Detail
Pathogenic	2024-01-30	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-08-13	criteria provided, single submitter	Factor XI	germline	Detail
Pathogenic	2020-09-16	no assertion criteria provided	Plasma factor XI deficiency	germline	Detail
Pathogenic	2023-10-12	criteria provided, single submitter	F11-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.587	factor XI deficiency	NA	CLINVAR		Detail
0.587	factor XI deficiency	Expression of human blood coagulation factor XI: characterization of the defect ...	UNIPROT	1547342	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000128.4(F11):c.901T>C (p.Phe301Leu) AND Hereditary factor XI deficiency disease	ClinVar	Detail
NM_000128.4(F11):c.901T>C (p.Phe301Leu) AND not provided	ClinVar	Detail
NM_000128.4(F11):c.901T>C (p.Phe301Leu) AND Factor XI	ClinVar	Detail
NM_000128.4(F11):c.901T>C (p.Phe301Leu) AND Plasma factor XI deficiency	ClinVar	Detail
NM_000128.4(F11):c.901T>C (p.Phe301Leu) AND F11-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
Expression of human blood coagulation factor XI: characterization of the defect in factor XI type II...	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: rs121965064 dbSNP
Genome: hg38
Position: chr4:186,280,258-186,280,258
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
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): 121412
Allele Counts in All Race (ExAC): 100
Heterozygous Counts in All Race (ExAC): 100
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.236418146476461E-4

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