Case ID: 506 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
15 | ||||
FVII:Ag% | 60 | |||
Reported Clinical Severity | Asymptomatic | |||
Comments | ||||
Reference | Herrmann et al 2000 | 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 | |||||||||||
70 | 6 | 8.3E-6 | Heterozygous | Point | Missense | Exon 8 | c.796G>A | GCG>ACG | 266 | 206 | p.Ala266Thr | Serine Protease |
99 | 2 | Heterozygous | Point | Missense | Exon 9 | c.1088C>G | CCC>CGC | 363 | 303 | p.Pro363Arg | Serine Protease |