|
Variant ID: 47 |
cDNA Change | c.469G>T |
|---|---|---|
| Amino Acid Change | p.Gly157Cys (Legacy AA No. 97) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF2 | |
| Sequence Context | GGC > TGC | |
| 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 | |||||||
| 9 | 4 | Homozygous | <1 | 2 | mild | Hunault et al 1999 | |||
| 95 | 6 | Heterozygous | 2 | 10 | mild | Bernardi et al 1993 | FVII LAZIO | ||
| 192 | 7 | Heterozygous | <1 | 8 | mild | Giansily-Blaizot et al 2001 | |||
| 383 | 5 | Heterozygous | 52 | 56 | unknown | Bernardi et al 1993 | |||