Factor VII Variant Database
Variant
ID: 995
cDNA Change c.-122T>C
Amino Acid Change (Legacy AA No. 0)
Type Point
Effect Promoter
Domain
Sequence Context
Location Flanking( 5')
Minor Allele Frequency (MAF) 0.1436

The details of the cases reported with the above variant is as below

Case ID
Other Variants found in case
Genotype
FVII:C (%)
FVII:Ag (%)
Reported Clinical Severity
Reference
Comments
TF-Unknown
TF-Human
TF-Rabbit
10 9 Homozygous 14-40 asymptomatic Wulff et al 2000
102 7 Homozygous 3 4 unknown Wulff et al 2000
238 7 Heterozygous 15 60 asymptomatic Wulff et al 2000
243 7 Heterozygous 18 74 unknown Wulff et al 2000 other lesion unknown
328 8 Homozygous 9 31 mild Wulff et al 2000