Case ID: 568 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1 | ||||
FVII:Ag% | UK | |||
Reported Clinical Severity | Severe | |||
Comments | ||||
Reference | Herrmann et al 2009 | 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 | |||||||||||
17 | 4 | Heterozygous | Point | Missense | Exon 3 | c.218T>A | CTG>CAG | 73 | 13 | p.Leu73Gln | Gla | |
39 | 4 | Heterozygous | Point | Missense | Exon 5 | c.413G>A | GGC>GAC | 138 | 78 | p.Gly138Asp | EGF1 | |
94 | 100 | 0.0007488 | Heterozygous | Point | Missense | Exon 9 | c.1061C>T | GCC>GTC | 354 | 294 | p.Ala354Val | Serine Protease |