|
Case ID: 277 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 5 | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | mild | |||
| 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) 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 |
| 121 | 1 | Heterozygous | Point | Nonsense | Exon 9 | c.1272G>A | TGG>TGA | 424 | 364 | p.Trp424* | Serine Protease | |
| 994 | 45 | 0.1342 | Homozygous | Point | Intronic | Intron 8 | c.806-20G>A | 0 | 0 | |||