Case ID: 99 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
44 | ||||
FVII:Ag% | 49 | |||
Reported Clinical Severity | asymptomatic | |||
Comments | ||||
Reference | Bernardi et al 1996 | 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 | |||||||||||
76 | 10 | 4.3E-5 | Heterozygous | Point | Missense | Exon 9 | c.847C>T | CGG>TGG | 283 | 223 | p.Arg283Trp | Serine Protease |
990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | 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 |