|
Case ID: 357 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2 | ||||
| FVII:Ag% | 15 | |||
| 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 | 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 | |||||||||||
| 45 | 5 | 3.49E-5 | Heterozygous | Point | Missense | Exon 6 | c.466G>A | GGC>AGC | 156 | 96 | p.Gly156Ser | EGF2 |
| 87 | 1 | Heterozygous | Deletion | Frameshift | Exon 9 | c.1006delG | delG | 336 | 276 | p.Val336Cysfs*30 | Serine Protease | |
| 996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||