|
Variant ID: 11 |
cDNA Change | c.38T>C |
|---|---|---|
| Amino Acid Change | p.Leu13Pro (Legacy AA No. -48) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Signal Peptide | |
| Sequence Context | CTT > CCT | |
| Location | Exon( 1) | |
| 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 | |||||||
| 203 | 3 | Homozygous | 10.7 | 11 | asymptomatic | Ozawa et al 1998 | FVII Morioka | ||
| 752 | 1 | Homozygous | 11 | 11 | Unknown | Rizzotto et al 2006 | |||
| 766 | 2 | Heterozygous | 13 | 11 | Asymptomatic | Suzuki et al 2013 | |||