Factor X Variant Database

Terms with a '*' next to them are explained on the Help Page .

c.205G>A

p.Glu69Lys (Legacy AA No. 29)

Variant Type:

Point

Domain:

Gla domain

Location:

Exon 2

Variant Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Karimi et al 2008; Karimi et al 2012
Variant primarily affects FX activity in the prothrombinase complex but also interferes with FX secretion.

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
162			Iranian	<1	19	Homozygous	Severe	Gum bleeding, hemarthroses, hematomas, epistaxis, CNS bleeding, umbilical cord bleeding. Related to pa_id: 163 & 164.	Karimi et al 2008
163		M	Iranian	65	52	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 162.	Karimi et al 2008
164		F	Iranian	54	52	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 162.	Karimi et al 2008
98	10	M	Iranian	0.4		-	Severe	Hemarthrosis, epistaxis, gum bleeding, intracranial hemorrhage.	Karimi et al 2012

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Factor X Variant Database

Factor X Gene (F10)