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Case ID: 569 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 3 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Herrmann et al 2009 | 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 | |||||||||||
| 42 | 12 | Heterozygous | Point | Intronic | Intron 5 | c.430+1G>A | GC gt>GC at | 0 | 0 | Splice Junction | ||
| 123 | 8 | 4.24E-5 | Heterozygous | Point | Missense | Exon 9 | c.1304G>A | GGG>GAG | 435 | 375 | p.Gly435Glu | Serine Protease |