Factor VII Variant Database

c.681+1G>T

Splice Junction (Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

CAGgt > CAGtt

Variant Effect:

Intronic

Location:

Intron (7)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

4.99E-5

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 7

Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
452		2	2		Heterozygous	1	Mild		Liu et al 2015
281		45			Heterozygous	2	mild		Millar et al 2000
315		<1		30	Heterozygous	-	mild		Peyvandi et al 2000b

Factor VII Variant Database

Factor VII Gene (F7)