Case ID: 359 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
2 | ||||
FVII:Ag% | ||||
Reported Clinical Severity | mild | |||
Comments | ||||
Reference | Giansily-Blaizot et al 2001 | 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 | |||||||||||
7 | 1 | 7.89E-5 | Heterozygous | Point | Missense | Exon 1 | c.1A>G | ATG>GTG | 1 | -60 | p.Met1Val | Signal Peptide |
994 | 45 | 0.1342 | Heterozygous | Point | Intronic | Intron 8 | c.806-20G>A | 0 | 0 | |||
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 |
999 | 64 | 0.1419 | Heterozygous | Point | Silent | Exon 6 | c.525C>T | CAC>CAT | 175 | 115 | p.His175= | EGF2 |