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Case ID: 449 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 5 | 5 | |||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Liu et al 2015 | 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 | |||||||||||
| 151 | 1 | Heterozygous | Point | Missense | Exon 9 | c.1163T>G | 388 | 328 | p.Phe388Cys | Serine Protease | ||
| 194 | 7 | 8.3E-6 | Heterozygous | Point | Intronic | Intron 6 | c.572-1G>A | 0 | 0 | |||