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Case ID: 784 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 8% | ||||
| FVII:Ag% | 24% | |||
| Reported Clinical Severity | moderate | |||
| Comments | ||||
| Reference | Kavlie et al 2003 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | ||
The details of the variants found in this patient are listed below
| Variant ID | No. of Cases | MAF* | Genotype | Type | Effect | Location in gene | Mutation (cDNA) | Sequence Context | Amino Acid | Protein Change | Domain | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HGVS | Legacy | |||||||||||
| 94 | 100 | 0.000749 | Heterozygous | Point | Missense | Exon 9 | c.1061C>T | GCC>GTC | 354 | 294 | p.Ala354Val | Serine Protease |
| 130 | 1 | Heterozygous | Point | Promoter | 5' Flanking | c.-59T>G | 0 | 0 | promoter | |||