Case ID: 434 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
4.4 | ||||
FVII:Ag% | 38.5 | |||
Reported Clinical Severity | Moderate | |||
Comments | ||||
Reference | Yu 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 |
|||||||||||
106 | 14 | 4.23E-5 | Heterozygous | Point | Missense | Exon 9 | c.1165T>G | TGT>GGT | 389 | 329 | p.Cys389Gly | Serine Protease |
194 | 7 | 8.3E-6 | Heterozygous | Point | Intronic | Intron 6 | c.572-1G>A | 0 | 0 |