|
Case ID: 482 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | <1 | |||
| FVII:Ag% | <1 | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Borensztajn et al 2002 | 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 | |||||||||||
| 73 | 10 | 0.012 | Homozygous | Point | Intronic | Intron 8 | c.805+7A>G | ggta>ggtg | 0 | 0 | ||
| 216 | 2 | 0.0005478 | Homozygous | Point | Missense | Exon 9 | c.851G>A | 284 | 224 | p.Arg284Gln | Serine Protease | |