|
Case ID: 349 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | 47 | |||
| Reported Clinical Severity | mild | |||
| Comments | ||||
| Reference | Giansily-Blaizot et al 2001 | |||
| Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 994(I1I1) 998(M1M1) | |||
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 |
|||||||||||
| 103 | 1 | Homozygous | Point | Missense | Exon 9 | c.1161G>T | ATG>ATT | 387 | 327 | p.Met387Ile | Serine Protease | |
| 999 | 64 | 0.1419 | Homozygous | Point | Silent | Exon 6 | c.525C>T | CAC>CAT | 175 | 115 | p.His175= | EGF2 |