Case ID: 234 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
13 | ||||
FVII:Ag% | ||||
Reported Clinical Severity | unknown | |||
Comments | ||||
Reference | Wulff et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 993(G1G1) 999(H1H1) 998(M1M1) 995(P1P1) 990(V6/V6) |
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 | |||||||||||
44 | 2 | 8.8E-6 | Homozygous | Point | Missense | Exon 6 | c.460G>A | GAG>AAG | 154 | 94 | p.Glu154Lys | EGF2 |