|
Variant ID: 8 |
cDNA Change | c.3G>C |
|---|---|---|
| Amino Acid Change | p.Met1Ile (Legacy AA No. -60) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Signal Peptide | |
| Sequence Context | ATG > ATC | |
| 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 |
|||||||
| 236 | 4 | Heterozygous | 1 | 1 | asymptomatic | Millar et al 2000 | |||