Case ID: 335 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
30 | ||||
FVII:Ag% | 64 | |||
Reported Clinical Severity | moderate | |||
Comments | ||||
Reference | Millar et al 2000 | 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 | |||||||||||
107 | 13 | 2.54E-5 | Heterozygous | Point | Missense | Exon 9 | c.1171G>A | GGC>AGC | 391 | 331 | p.Gly391Ser | Serine Protease |
996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||
998 | 116 | 0.1341 | Heterozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |