Case ID: 294 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
2 | ||||
FVII:Ag% | 7 | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Millar et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) |
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 | |||||||||||
17 | 4 | Heterozygous | Point | Missense | Exon 3 | c.218T>A | CTG>CAG | 73 | 13 | p.Leu73Gln | Gla | |
94 | 100 | 0.0007488 | Heterozygous | Point | Missense | Exon 9 | c.1061C>T | GCC>GTC | 354 | 294 | p.Ala354Val | Serine Protease |
998 | 116 | 0.1341 | Homozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |