Case ID: 757 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
1,2 | ||||
FVII:Ag% | 21 | |||
Reported Clinical Severity | Unknown | |||
Comments | ||||
Reference | Nagaizumi et al 2002 | 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 | |||||||||||
23 | 2 | Heterozygous | Point | Missense | Exon 3 | c.253G>A | GAG>AAG | 85 | 25 | p.Glu85Lys | Gla | |
115 | 13 | 2.57E-5 | Heterozygous | Point | Missense | Exon 9 | c.1224T>G | CAT>CAG | 408 | 348 | p.His408Gln | Serine Protease |