|
Variant ID: 91 |
cDNA Change | c.1027G>A |
|---|---|---|
| Amino Acid Change | p.Gly343Ser (Legacy AA No. 283) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GGC > AGC | |
| 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 | |||||||
| 411 | 4 | Heterozygous | 52 | 73 | asymptomatic | Unpublished Submission | |||
| 525 | 1 | Homozygous | 7 | UK | Severe | Herrmann et al 2009 | |||
| 526 | 1 | Homozygous | 7 | UK | Asymptomatic | Herrmann et al 2009 | |||
| 562 | 2 | Heterozygous | 3 | UK | Severe | Herrmann et al 2009 | |||
| 740 | 1 | Homozygous | 2.5 | 100 | Severe | Pinotti et al 2002 | |||
| 767 | 2 | Heterozygous | <10 | UK | Severe | Lee et al 2008 | |||
| 773 | 2 | Heterozygous | 1 | UK | Mild | Kwon et al 2011 | |||
| 777 | 2 | Heterozygous | 5 | UK | Mild | Kwon et al 2011 | |||
| 789 | 1 | Homozygous | 3 | 3 | UK | Severe | Salcioglu et al 2012 | ||
| 790 | 1 | Homozygous | 0_<2 | 0_<2 | UK | Severe | Salcioglu et al 2012 | ||