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Variant ID: 72 |
cDNA Change | c.805+5G>A |
|---|---|---|
| Amino Acid Change | (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Intronic | |
| Domain | ||
| Sequence Context | ||
| 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 | |||||||
| 20 | 3 | Heterozygous | 21 | 25 | mild | Millar et al 2000 | |||
| 21 | 5 | Homozygous | 2 | 1 | severe | Bernardi et al 1993 | FVII LAZIO | ||
| 92 | 5 | Homozygous | 1 | 1 | severe | Bernardi et al 1993 | FVII LAZIO | ||
| 93 | 5 | Homozygous | 1.2 | 1 | severe | Bernardi et al 1993 | FVII LAZIO | ||
| 94 | 1 | Homozygous | <1 | <1 | severe | Pinotti et al 1998 | |||
| 95 | 6 | Heterozygous | 2 | 10 | mild | Bernardi et al 1993 | FVII LAZIO | ||
| 184 | 5 | Homozygous | 1.1 | 1 | severe | Bernardi et al 1993 | FVII LAZIO | ||
| 320 | 5 | Heterozygous | 27 | 24 | unknown | Bernardi et al 1993 | FVII LAZIO | ||
| 732 | 2 | Heterozygous | 1 | 42 | Mild | Toso et al 2003 | |||