Case ID: 386 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
6 | ||||
FVII:Ag% | 3 | |||
Reported Clinical Severity | mild | |||
Comments | ||||
Reference | Peyvandi et al 2000b | 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 | |||||||||||
14 | 4 | Homozygous | Point | Intronic | Intron 1 | c.64+5G>A | CAGgtgcg>CAGgtgca | 0 | 0 |