Case ID: 431 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
8.2 | ||||
FVII:Ag% | 34.1 | |||
Reported Clinical Severity | Mild | |||
Comments | ||||
Reference | Ding et al 2005 | 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 | Heterozygous | Point | Intronic | Intron 1 | c.64+5G>A | CAGgtgcg>CAGgtgca | 0 | 0 | |||
115 | 13 | 2.57E-5 | Heterozygous | Point | Missense | Exon 9 | c.1224T>G | CAT>CAG | 408 | 348 | p.His408Gln | Serine Protease |