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Case ID: 732 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 1 | ||||
| FVII:Ag% | 42 | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Toso 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 | |||||||||||
| 72 | 9 | Heterozygous | Point | Intronic | Intron 8 | c.805+5G>A | ggta>gata | 0 | 0 | |||
| 199 | 1 | Heterozygous | Point | Missense | Exon 7 | c.641T>G | 214 | 154 | p.Val214Gly | Serine Protease | ||