Case ID: 336 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1 | ||||
FVII:Ag% | 125.7 | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Shen et al 2001 | 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 | |||||||||||
98 | 2 | Homozygous | Point | Missense | Exon 9 | c.1087C>A | CCC>ACC | 363 | 303 | p.Pro363Thr | Serine Protease |