|
Case ID: 211 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1? | ||||
| FVII:Ag% | <3 | |||
| Reported Clinical Severity | mild | |||
| Comments | ||||
| Reference | Tidd et al 1999 | |||
| 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 |
|||||||||||
| 4 | 2 | Heterozygous | Point | Promoter | 5' Flanking | c.-60T>C | actttg>actctg | 0 | 0 | promoter | ||
| 114 | 6 | Heterozygous | Point | Missense | Exon 9 | c.1223A>G | CAT>CGT | 408 | 348 | p.His408Arg | Serine Protease | |