|
Variant ID: 58 |
cDNA Change | c.635G>A |
|---|---|---|
| Amino Acid Change | p.Arg212Gln (Legacy AA No. 152) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Activation Peptide | |
| Sequence Context | CGA > CAA | |
| Location | Exon( 7) | |
| 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 | |||||||
| 6 | 2 | Heterozygous | 66 | 100 | asymptomatic | Chaing et al 1994 | Both Variants in cis | ||
| 18 | 6 | Heterozygous | 41 | unknown | Wulff et al 2000 | ||||
| 89 | 2 | Homozygous | <1 | 100 | severe | Chaing et al 1994 | |||
| 91 | 1 | Homozygous | <1 | 78 | mild | Peyvandi et al 2000b | |||
| 204 | 5 | Homozygous | <1 | <1 | severe | Carew et al 1998 | |||
| 225 | 8 | Heterozygous | <1 | severe | Giansily-Blaizot et al 2001 | ||||
| 610 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 611 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 612 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 613 | 1 | Heterozygous | 30_<50 | UK | Mild | Herrmann et al 2009 | |||
| 694 | 1 | Homozygous | <1 | UK | Severe | Jayandharan et al 2007 | |||
| 696 | 1 | Homozygous | <1 | 2 | Severe | Mota et al 2009 | |||
| 697 | 1 | Homozygous | 5.4 | 75 | Severe | Mota et al 2009 | |||
| 776 | 2 | Heterozygous | 1 | UK | Moderate | Kwon et al 2011 | |||