|
Case ID: 522 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <4 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | ||||
| 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 | |||||||||||
| 45 | 5 | 3.49E-5 | Homozygous | Point | Missense | Exon 6 | c.466G>A | GGC>AGC | 156 | 96 | p.Gly156Ser | EGF2 |