Case ID: 6 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
66 | ||||
FVII:Ag% | 100 | |||
Reported Clinical Severity | asymptomatic | |||
Comments | ||||
Reference | Chaing et al 1994 | 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 | |||||||||||
41 | 7 | 0.0005875 | Heterozygous | Point | Missense | Exon 5 | c.416G>A | CGG>CAG | 139 | 79 | p.Arg139Gln | EGF1 |
58 | 14 | Heterozygous | Point | Missense | Exon 7 | c.635G>A | CGA>CAA | 212 | 152 | p.Arg212Gln | Activation Peptide |