|
Case ID: 353 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| FVII:Ag% | ||||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | Kavlie et al 1997 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | ||
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 | |||||||||||
| 49 | 56 | 0.0001376 | Heterozygous | Point | Missense | Exon 6 | c.479A>G | CAG>CGG | 160 | 100 | p.Gln160Arg | EGF2 |
| 123 | 8 | 4.24E-5 | Heterozygous | Point | Missense | Exon 9 | c.1304G>A | GGG>GAG | 435 | 375 | p.Gly435Glu | Serine Protease |