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Case ID: 53 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 1.7 | ||||
| FVII:Ag% | 1.2 | |||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Millar et al 1992 | 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 | |||||||||||
| 84 | 1 | Heterozygous | Deletion | Frameshift | Exon 9 | c.961delC | delC | 321 | 261 | p.Leu321Serfs*45 | Serine Protease | |
| 93 | 1 | Heterozygous | Deletion | Frameshift | Exon 9 | c.1048delC | delC | 350 | 290 | p.Arg350Valfs*16 | Serine Protease | |