Factor V Variant Database

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

c.698C>G

p.Thr233Arg (Legacy AA No. 205)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 5

Variant Effect:

Missense

Codon Change:

698C>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Frotscher et al 2012
GI bleeding at age 3 weeks and additional minor bleeds

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
702	NA	M	NA	0	NA	<1	NA	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	GI bleeding at age 3 weeks and other minor bleeds	Frotscher et al 2012
703	NA	M	NA	0	NA	<1	NA	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	umbilical cord bleed at birth	Frotscher et al 2012
81	NA	M	NA	0	NA	<1	NA	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	GI bleeding at age 3 weeks and additional minor bleeds	Frotscher et al 2012
82	NA	M	NA	0	NA	<1	NA	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	umbilical cord bleed at birth; spontaneous left knee haemarthrosis; subdural and extradural haematoma	Frotscher et al 2012
83	NA	F	NA	36	NA	NA	NA	Heterozygous		Asymptomatic	NA	Frotscher et al 2012

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Factor X Variant Database

Factor V Gene (F5)