Case ID: 258 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
1 | ||||
FVII:Ag% | 9 | |||
Reported Clinical Severity | asymptomatic | |||
Comments | ||||
Reference | Giansily-Blaizot et al 2001 | |||
Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 999(H1H1) 990(V6/V6) 994(I1I1) 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 |
|||||||||||
96 | 22 | 6.81E-5 | Heterozygous | Point | Missense | Exon 9 | c.1074G>A | ATG>ATA | 358 | 298 | p.Met358Ile | Serine Protease |
102 | 38 | 4.25E-5 | Heterozygous | Point | Missense | Exon 9 | c.1109G>T | TGC>TTC | 370 | 310 | p.Cys370Phe | Serine Protease |