Case ID: 238 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
15 | ||||
FVII:Ag% | 60 | |||
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 | |||||||||||
70 | 6 | 8.3E-6 | Heterozygous | Point | Missense | Exon 8 | c.796G>A | GCG>ACG | 266 | 206 | p.Ala266Thr | Serine Protease |
99 | 2 | Heterozygous | Point | Missense | Exon 9 | c.1088C>G | CCC>CGC | 363 | 303 | p.Pro363Arg | Serine Protease | |
990 | 89 | 0.31 | Heterozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||
993 | 7 | 0.2096 | Heterozygous | Point | Intronic | Intron 1 | c.64+9G>A | 0 | 0 | |||
995 | 5 | 0.1436 | Heterozygous | Point | Promoter | 5' Flanking | c.-122T>C | 0 | 0 | |||
996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||
999 | 64 | 0.1419 | Heterozygous | Point | Silent | Exon 6 | c.525C>T | CAC>CAT | 175 | 115 | p.His175= | EGF2 |