Case ID: 486 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1% | ||||
FVII:Ag% | <1% | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Giansily-Blaizot et al 2012 | Common Variant Sites tested and found to be as per the reference sequence in both alleles |
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 | |||||||||||
132 | 1 | Homozygous | Point | Promoter | 5' Flanking | c.-65G>C | 0 | 0 | promoter |