|
Variant ID: 107 |
cDNA Change | c.1171G>A |
|---|---|---|
| Amino Acid Change | p.Gly391Ser (Legacy AA No. 331) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GGC > AGC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 2.54E-5 |
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 | |||||||
| 335 | 3 | Heterozygous | 30 | 64 | moderate | Millar et al 2000 | |||
| 355 | 6 | Heterozygous | <1 | 64 | asymptomatic | Giansily-Blaizot et al 2001 | |||
| 396 | 2 | Heterozygous | 7 | 41 | moderate | Marchetti et al 1992 | other allele is not determined | ||
| 454 | 2 | Heterozygous | 3 | UK | Asymptomatic | Sabater-Lleal et al 2003 | |||
| 457 | 1 | Heterozygous | 42 | 74 | Marty et al 2008 | thrombotic episode | |||
| 520 | 1 | Homozygous | 7 | UK | Mild | Herrmann et al 2009 | |||
| 735 | 1 | Homozygous | 2 | UK | Asymptomatic | Pinotti et al 2002 | |||
| 736 | 1 | Homozygous | 0.7 | UK | Asymptomatic | Pinotti et al 2002 | |||
| 737 | 1 | Homozygous | 0.7 | UK | Asymptomatic | Pinotti et al 2002 | |||
| 738 | 1 | Homozygous | 0.6 | UK | Mild | Pinotti et al 2002 | |||
| 739 | 1 | Homozygous | 1.1 | UK | Mild | Pinotti et al 2002 | |||
| 741 | 2 | Heterozygous | 4 | 95 | Asymptomatic | Etro et al 2003 | |||
| 761 | 1 | Homozygous | 1,2 | 1,2 | 84 | Asymptomatic | Takamiya et al 2005 | ||