|
Case ID: 440 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2_<6 | ||||
| FVII:Ag% | not in the abstract | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Jin et al 2012 | 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 | |||||||||||
| 127 | 2 | Homozygous | Deletion | Frameshift | Exon 1 | c.27_28delCT | delCT | 10 | -51 | p.Cys10Profs*16 | Signal Peptide | |