Factor X Variant Database

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

c.792C>T

p.Thr264= (Legacy AA No. 224)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 7

Variant Effect:

Silent

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

None

Allele Count *:

213029

Allele Number *:

282526

Allele Frequency *:

0.754016

Miyata et al 1998; Deam et al 2001; Iijima et al 2001; Shikata et al 2004
Polymorphism.

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
1	12	F		4	7	Heterozygous	c.1A>G (p.Met1Val)c.1030C>T (p.Pro344Ser)	Asymptomatic	No history of bleeding. Related to pa_id: 2 & 3.	Miyata et al 1998
12	9	M	Indian	<1	<1	Homozygous	c.854A>T (p.Lys285Met)	Not Reported	Echymosis, circumcision bleed.	Mota et al 2010
14	12	M	Indian	<1		Homozygous	c.863T>C (p.Val288Ala)	Not Reported	Epistaxis.	Mota et al 2010
15	9	M	Indian	<1		-	c.-40C>T ( )c.-221C>A ( )	Not Reported	Hemetemesis, hemarthrosis, dental extraction bleed, CNS bleed.	Mota et al 2010
16	21	F	Indian	<1	<1	Heterozygous	c.1061T>G (p.Met354Arg)c.-40C>T ( )	Not Reported	Menorrhagia, mucosal bleeds.	Mota et al 2010
18	1	M	Indian	<1		-		Not Reported	Mucosal bleeds.	Mota et al 2010
19	10	F	Indian	<1		Heterozygous	c.22G>T (p.Val8Phe)c.1066C>T (p.Gln356*)	Severe	Hemarthrosis, spontaneous bleeds.	Mota et al 2010
4	25	F	Indian	1.5	46	Homozygous	c.863T>C (p.Val288Ala)	Not Reported	Echymosis, menorrhagia.	Mota et al 2010

Structural analysis cannot be performed on this (Point | Silent) variant.

Factor X Variant Database

Factor X Gene (F10)