Case ID: 306 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
1 | ||||
FVII:Ag% | 6 | |||
Reported Clinical Severity | unknown | |||
Comments | ||||
Reference | Millar et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) -(C1C1) 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 | |||||||||||
49 | 56 | 0.0001376 | Heterozygous | Point | Missense | Exon 6 | c.479A>G | CAG>CGG | 160 | 100 | p.Gln160Arg | EGF2 |
116 | 1 | Heterozygous | Deletion | Frameshift | Exon 9 | c.1246delT | delT | 416 | 356 | p.Trp416Glyfs*3 | Serine Protease |