|
Case ID: 177 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 53 | ||||
| FVII:Ag% | 89 | |||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | Bernardi et al 1994a | |||
| Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 998(M1M1) 990(V6/V6) | |||
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 |
|||||||||||
| 102 | 38 | 4.25E-5 | Heterozygous | Point | Missense | Exon 9 | c.1109G>T | TGC>TTC | 370 | 310 | p.Cys370Phe | Serine Protease |