Case ID: 240 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
FVII:Ag% | ||||
Reported Clinical Severity | unknown | |||
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 | |||||||||||
81 | 6 | 1.68E-5 | Homozygous | Point | Missense | Exon 9 | c.919C>T | CGC>TGC | 307 | 247 | p.Arg307Cys | 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 |