Factor V Variant Database

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

c.2218C>T

p.Arg740* (Legacy AA No. 712)

Variant Type:

Point

Domain:

d5B

Location:

Exon 13

Variant Effect:

Nonsense

Codon Change:

2218C>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

thrombosis

Allele Count *:

Allele Number *:

282550

Allele Frequency *:

0.000085

Coppola et al 2010
recurrent epistaxis; menorrhagia

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
222	NA	M	NA	52	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance; three DVTs	Lunghi et al 1998
295	NA	F	NA	1	NA	NA	NA	Heterozygous	c.3510_3511delAA (p.Ile1170Metfs*10)	Moderate	recurrent epistaxis; menorrhagia	Coppola et al 2010
296	NA	M	NA	52	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance: thrombotic episodes in lower limbs; three DVTs;	Lunghi et al 1998
297	NA	M	NA	44	NA	NA	NA	Heterozygous		Asymptomatic	NA	Lunghi et al 1998
298	NA	M	NA	<1	NA	5	NA	Heterozygous	c.5521G>A (p.Val1841Met)	Severe	epistaxis and easy bruising requiring plasma infusion after dental extraction	Montefusco et al 2003
299	NA	F	NA	61	NA	85	NA	Heterozygous		Asymptomatic	mild menorrhagia	Montefusco et al 2003
300	NA	M	NA	60	NA	88	NA	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
301	NA	N	NA	2	NA	2	NA	Heterozygous	c.6182G>A (p.Cys2061Tyr)	Moderate	abdominal blood stagnation and haematoma following vitamin K injection at birth	Paraboschi et al 2020
302	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008
442	NA	F	NA	1	NA	NA	NA	Heterozygous	c.3510_3511delAA (p.Ile1170Metfs*10)	Moderate	recurrent epistaxis; menorrhagia; haemoperitoneum	Coppola et al 2010
649	NA	M	NA	0	NA	5	NA	Heterozygous	c.5521G>A (p.Val1841Met)	Severe	easy bruising and epistaxis	Montefusco et al 2003
730	NA	N	NA	2	NA	2	NA	Heterozygous	c.6182G>A (p.Cys2061Tyr)	Moderate	abdominal blood stagnation and haematoma following vitamin K injection at birth	Paraboschi et al 2020

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

Factor X Variant Database

Factor V Gene (F5)