Case ID: 326 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
3 | ||||
FVII:Ag% | 13 | |||
Reported Clinical Severity | asymptomatic | |||
Comments | ||||
Reference | Millar et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 998(M1M1) |
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 | |||||||||||
79 | 18 | 8.4E-6 | Heterozygous | Point | Missense | Exon 9 | c.910G>A | GCG>ACG | 304 | 244 | p.Ala304Thr | Serine Protease |