Case ID: 204 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1 | ||||
FVII:Ag% | <1 | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Carew et al 1998 | 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 | |||||||||||
2 | 1 | Homozygous | Point | Promoter | 5' Flanking | c.-94C>G | cctccc>cctccg | 0 | 0 | |||
5 | 4 | Homozygous | Point | Promoter | 5' Flanking | c.-55C>T | ctttgcccg>ctttgcctg | 0 | 0 | promoter | ||
58 | 14 | Homozygous | Point | Missense | Exon 7 | c.635G>A | CGA>CAA | 212 | 152 | p.Arg212Gln | Activation Peptide | |
998 | 116 | 0.1341 | Homozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |
999 | 64 | 0.1419 | Homozygous | Point | Silent | Exon 6 | c.525C>T | CAC>CAT | 175 | 115 | p.His175= | EGF2 |