|
Variant ID: 193 |
cDNA Change | c.550G>A |
|---|---|---|
| Amino Acid Change | p.Gly184Arg (Legacy AA No. 124) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF2 | |
| Sequence Context | AGG > GGG | |
| Location | Exon( 6) | |
| 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 | |||||||
| 485 | 1 | Heterozygous | 31 | 32 | Mild | Qu_lin et al 2008 | |||