|
Case ID: 173 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 1 | ||||
| FVII:Ag% | 9 | |||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Millar 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 |
|||||||||||
| 37 | 1 | Heterozygous | Point | Missense | Exon 5 | c.374T>C | CTC>CCC | 125 | 65 | p.Leu125Pro | EGF2 | |
| 123 | 8 | 4.24E-5 | Heterozygous | Point | Missense | Exon 9 | c.1304G>A | GGG>GAG | 435 | 375 | p.Gly435Glu | Serine Protease |
| 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 |