Case ID: 732 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
1 | ||||
FVII:Ag% | 42 | |||
Reported Clinical Severity | Mild | |||
Comments | ||||
Reference | Toso et al 2003 | 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 | |||||||||||
72 | 9 | Heterozygous | Point | Intronic | Intron 8 | c.805+5G>A | ggta>gata | 0 | 0 | |||
199 | 1 | Heterozygous | Point | Missense | Exon 7 | c.641T>G | 214 | 154 | p.Val214Gly | Serine Protease |