|
Case ID: 203 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 10.7 | ||||
| FVII:Ag% | 11 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Ozawa et al 1998 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 998(M1M1) | |
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 | |||||||||||
| 11 | 3 | Homozygous | Point | Missense | Exon 1 | c.38T>C | CTT>CCT | 13 | -48 | p.Leu13Pro | Signal Peptide | |