|
Variant ID: 37 |
cDNA Change | c.374T>C |
|---|---|---|
| Amino Acid Change | p.Leu125Pro (Legacy AA No. 65) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF2 | |
| Sequence Context | CTC > CCC | |
| Location | Exon( 5) | |
| 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 | |||||||
| 173 | 4 | Heterozygous | 1 | 9 | severe | Millar et al 2000 | |||