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Case ID: 731 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | <10 | |||
| Reported Clinical Severity | Moderate | |||
| Comments | ||||
| Reference | Peyvandi et al 2001 | 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 | |||||||||||
| 212 | 1 | Homozygous | Duplication | Frameshift | Exon 9 | c.817_831dup | 272 | 212 | (p.Asp272_Leu273insLeuSerGluHisAsp) p.Leu273_Asp277dup | Serine Protease | ||