|
Variant ID: 185 |
cDNA Change | c.35T>C |
|---|---|---|
| Amino Acid Change | p.Leu12Pro (Legacy AA No. -49) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Signal Peptide | |
| Sequence Context | CCG > CTG | |
| 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 | |||||||
| 764 | 2 | Heterozygous | 12.5 | 14.5 | 14.5 | Unknown | Kogiso et al 2011 | ||