|
Variant ID: 28 |
cDNA Change | c.291+5G>T |
|---|---|---|
| Amino Acid Change | (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Intronic | |
| Domain | ||
| Sequence Context | ||
| Location | Intron( 3) | |
| Minor Allele Frequency (MAF) |
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 |
|||||||
| 218 | 8 | Heterozygous | 4 | mild | Wulff et al 2000 | ||||
| 500 | 2 | Heterozygous | 4 | UK | Moderate | Herrmann et al 2000 | |||