|
Variant ID: 71 |
cDNA Change | c.805+3_805+6del |
|---|---|---|
| Amino Acid Change | (Legacy AA No. 0) | |
| Type | Deletion | |
| Effect | Frameshift | |
| Domain | ||
| Sequence Context | TGGgtgggtacc>TGGgtacc | |
| Location | Intron( 8) | |
| 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 | |||||||
| 185 | 3 | Heterozygous | 55 | 50 | moderate | Millar et al 2000 | |||
| 249 | 3 | Heterozygous | 50 | 50 | moderate | Millar et al 2000 | |||
| 318 | 4 | Heterozygous | 27 | unknown | Wulff et al 2000 | ||||
| 319 | 1 | Heterozygous | 61 | 58 | asymptomatic | Pinotti et al 1998 | |||