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 |