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Case ID: 117 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 4 | 4 | |||
| FVII:Ag% | 12 | |||
| Reported Clinical Severity | moderate | |||
| Comments | ||||
| Reference | Arbini et al 1994 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 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 | |||||||||||
| 94 | 100 | 0.0007488 | Homozygous | Point | Missense | Exon 9 | c.1061C>T | GCC>GTC | 354 | 294 | p.Ala354Val | Serine Protease |
| 125 | 59 | Homozygous | Deletion | Frameshift | Exon 9 | c.1391delC | delC | 464 | 404 | p.Pro464Hisfs*32 | Serine Protease | |