|
Variant ID: 60 |
cDNA Change | c.647G>A |
|---|---|---|
| Amino Acid Change | p.Gly216Asp (Legacy AA No. 156) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GGC > GAC | |
| Location | Exon( 7) | |
| 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 | |||||||
| 292 | 9 | Heterozygous | 15 | severe | Wulff et al 2000 | ||||
| 489 | 3 | Heterozygous | 15 | UK | Moderate | Herrmann et al 2000 | |||