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Case ID: 512 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| UK | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Asymptomatic | |||
| 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 | |||||||||||
| 44 | 2 | 8.8E-6 | Homozygous | Point | Missense | Exon 6 | c.460G>A | GAG>AAG | 154 | 94 | p.Glu154Lys | EGF2 |