|
Case ID: 367 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 3 | ||||
| FVII:Ag% | 37 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Giansily-Blaizot et al 2001 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 999(H1H1) 994(I1I1) 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 | |||||||||||
| 96 | 22 | 6.81E-5 | Heterozygous | Point | Missense | Exon 9 | c.1074G>A | ATG>ATA | 358 | 298 | p.Met358Ile | Serine Protease |
| 990 | 89 | 0.31 | Heterozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||