Case ID: 10 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
14-40 | ||||
FVII:Ag% | ||||
Reported Clinical Severity | asymptomatic | |||
Comments | ||||
Reference | Wulff 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 | |||||||||||
46 | 5 | 2.61E-5 | Heterozygous | Point | Missense | Exon 6 | c.469G>A | GGC>AGC | 157 | 97 | p.Gly157Ser | EGF2 |
94 | 100 | 0.0007488 | Heterozygous | Point | Missense | Exon 9 | c.1061C>T | GCC>GTC | 354 | 294 | p.Ala354Val | Serine Protease |
125 | 59 | Heterozygous | Deletion | Frameshift | Exon 9 | c.1391delC | delC | 464 | 404 | p.Pro464Hisfs*32 | Serine Protease | |
990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||
993 | 7 | 0.2096 | Homozygous | Point | Intronic | Intron 1 | c.64+9G>A | 0 | 0 | |||
995 | 5 | 0.1436 | Homozygous | Point | Promoter | 5' Flanking | c.-122T>C | 0 | 0 | |||
996 | 80 | 0.23 | Homozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||
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 |