|
Case ID: 215 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 8 | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | Wulff et al 2000 | |||
| Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 993(G1G1) 999(H1H1) 998(M1M1) 995(P1P1) 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 |
|||||||||||
| 13 | 2 | 4.49E-5 | Homozygous | Point | Missense | Exon 1 | c.64G>A | GGC>AGC | 22 | -39 | p.Gly22Ser | Propeptide |