|
Variant ID: 191 |
cDNA Change | c.529G>A |
|---|---|---|
| Amino Acid Change | p.Gly177Arg (Legacy AA No. 117) | |
| 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 | |||||||
| 693 | 1 | Homozygous | <1 | UK | Mild | Jayandharan et al 2007 | |||
| 699 | 2 | Heterozygous | <1 | 2 | Severe | Mota et al 2009 | |||
| 807 | 2 | Heterozygous | 4 | 1.1 | Severe | Gomez et al 2004 | |||