Case ID: 448 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
UK | UK | |||
FVII:Ag% | UK | |||
Reported Clinical Severity | Unknown | |||
Comments | ||||
Reference | Li et al 2015 | 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 | |||||||||||
73 | 10 | 0.012 | Heterozygous | Point | Intronic | Intron 8 | c.805+7A>G | ggta>ggtg | 0 | 0 | ||
194 | 7 | 8.3E-6 | Heterozygous | Point | Intronic | Intron 6 | c.572-1G>A | 0 | 0 |