|
Case ID: 807 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 4 | ||||
| FVII:Ag% | 1.1 | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Gomez et al 2004 | 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 | |||||||||||
| 57 | 11 | 1.66E-5 | Heterozygous | Point | Nonsense | Exon 7 | c.634C>T | CGA>TGA | 212 | 152 | p.Arg212* | Activation Peptide |
| 191 | 3 | Heterozygous | Point | Missense | Exon 6 | c.529G>A | 177 | 117 | p.Gly177Arg | EGF2 | ||