Case ID: 92 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
1 | ||||
FVII:Ag% | 1 | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Bernardi et al 1993 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 999(H1H1) 998(M1M1) 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 | |||||||||||
72 | 9 | Homozygous | Point | Intronic | Intron 8 | c.805+5G>A | ggta>gata | 0 | 0 |