|
Case ID: 161 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | 65 | |||
| Reported Clinical Severity | severe | |||
| 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 | |||||||||||
| 104 | 3 | 1.69E-5 | Heterozygous | Point | Missense | Exon 9 | c.1163T>C | TTC>TCC | 388 | 328 | p.Phe388Ser | Serine Protease |
| 112 | 1 | Heterozygous | Point | Missense | Exon 9 | c.1207G>A | GAC>AAC | 403 | 343 | p.Asp403Asn | Serine Protease | |