|
Variant ID: 212 |
cDNA Change | c.817_831dup |
|---|---|---|
| Amino Acid Change | (p.Asp272_Leu273insLeuSerGluHisAsp) p.Leu273_Asp277dup (Legacy AA No. 212) | |
| Type | Duplication | |
| Effect | Frameshift | |
| Domain | Serine Protease | |
| Sequence Context | ||
| Location | Exon( 9) | |
| 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 | |||||||
| 731 | 1 | Homozygous | <1 | <10 | Moderate | Peyvandi et al 2001 | |||