|
Case ID: 435 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 4 | ||||
| FVII:Ag% | 130 | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Jiang et al 2011 | 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 | |||||||||||
| 194 | 7 | 8.3E-6 | Heterozygous | Point | Intronic | Intron 6 | c.572-1G>A | 0 | 0 | |||
| 204 | 1 | Heterozygous | Point | Missense | Exon 8 | c.749C>T | 250 | 190 | p.Ser250Phe | Serine Protease | ||