Case ID: 260 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1 | ||||
FVII:Ag% | ||||
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 | |||||||||||
102 | 38 | 4.25E-5 | Heterozygous | Point | Missense | Exon 9 | c.1109G>T | TGC>TTC | 370 | 310 | p.Cys370Phe | Serine Protease |
211 | 1 | Heterozygous | Deletion | Inframe | Intron 8 | c.806_820del | 270 | 210 | p.Glu270_Ser274del | Serine Protease |