|
Case ID: 751 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | <1 | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | D'Andrea 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 | |||||||||||
| 51 | 4 | 8.5E-6 | Heterozygous | Point | Missense | Exon 6 | c.508C>T | CGC>TGC | 170 | 110 | p.Arg170Cys | EGF2 |
| 192 | 1 | Heterozygous | Point | Missense | Exon 6 | c.547G>T | 183 | 123 | p.Asp183Tyr | EGF2 | ||