Case ID: 264 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1 | ||||
FVII:Ag% | 6 | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Peyvandi et al 2000b | 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 | |||||||||||
90 | 1 | Heterozygous | Point | Missense | Exon 9 | c.1026C>G | AGC>AGG | 342 | 282 | p.Ser342Arg | Serine Protease |