|
Case ID: 11 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 27 | ||||
| FVII:Ag% | 35 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Bernardi et al 1993 | |||
| Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) | |||
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 |
| 990 | 89 | 0.31 | Heterozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||
| 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 |