Case ID: 770 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
1,3 | ||||
FVII:Ag% | UK | |||
Reported Clinical Severity | Moderate | |||
Comments | ||||
Reference | Kwon et al 2011 | 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 | |||||||||||
106 | 14 | 4.23E-5 | Heterozygous | Point | Missense | Exon 9 | c.1165T>G | TGT>GGT | 389 | 329 | p.Cys389Gly | Serine Protease |
168 | 1 | Heterozygous | Duplication | Frameshift | Exon 3 | c.158dup | 54 | -6 | p.Val54Argfs*53 | Propeptide |