|
Case ID: 347 |
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 | |||||||||||
| 25 | 3 | 5.38E-5 | Heterozygous | Point | Missense | Exon 3 | c.262C>G | CGG>GGG | 88 | 28 | p.Arg88Gly | Gla |
| 88 | 6 | 6.74E-5 | Heterozygous | Point | Missense | Exon 9 | c.1009C>T | CGC>TGC | 337 | 277 | p.Arg337Cys | Serine Protease |
| 994 | 45 | 0.1342 | Homozygous | Point | Intronic | Intron 8 | c.806-20G>A | 0 | 0 | |||
| 996 | 80 | 0.23 | Homozygous | 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 |