|
Case ID: 562 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 3 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Herrmann et al 2009 | |||
| 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 |
|||||||||||
| 62 | 6 | 4.99E-5 | Heterozygous | Point | Intronic | Intron 7 | c.681+1G>T | CAGgt>CAGtt | 0 | 0 | Splice Junction | |
| 91 | 10 | Heterozygous | Point | Missense | Exon 9 | c.1027G>A | GGC>AGC | 343 | 283 | p.Gly343Ser | Serine Protease | |