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Case ID: 699 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | 2 | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Mota et al 2009 | 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 | |||||||||||
| 191 | 3 | Heterozygous | Point | Missense | Exon 6 | c.529G>A | 177 | 117 | p.Gly177Arg | EGF2 | ||
| 225 | 3 | Heterozygous | Point | Missense | Exon 9 | c.968T>G | 323 | 263 | p.Leu323Arg | Serine Protease | ||