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Case ID: 819 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | 13 | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Pruthi et al 2007 | 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 | |||||||||||
| 190 | 2 | 4.27E-5 | Homozygous | Point | Missense | Exon 6 | c.487A>G | 163 | 103 | p.Ser163Gly | EGF2 | |