Factor X Variant Database

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

c.1210T>C

p.Cys404Arg (Legacy AA No. 364)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 8

Variant Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Millar et al 2000; Todd et al 2006
Variant interferes with native disulfide bond formation, disrupting native FX folding and stability.

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
145	2	F	British		2		Homozygous	Severe	History of severe bleeding.	Mitchell et al 2019
147	11	F	British		<1		Homozygous	Severe	History of severe bleeding.	Mitchell et al 2019
350			Iranian		4		Homozygous	Severe	Extenisve bleeding, hematomas.	Todd et al 2006
43				48		31	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 44.	Millar et al 2000
44		M		64		52	Heterozygous	Asymptomatic	Related to pa_id: 43.	Millar et al 2000

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Factor X Variant Database

Factor X Gene (F10)