Case ID: 334 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
2 | ||||
FVII:Ag% | 49 | |||
Reported Clinical Severity | moderate | |||
Comments | ||||
Reference | Au 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 | |||||||||||
36 | 1 | Heterozygous | Point | Nonsense | Exon 5 | c.363C>A | TGC>TGA | 121 | 61 | p.Cys121* | EGF1 | |
106 | 14 | 4.23E-5 | Heterozygous | Point | Missense | Exon 9 | c.1165T>G | TGT>GGT | 389 | 329 | p.Cys389Gly | Serine Protease |