|
Case ID: 329 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | 6 | |||
| Reported Clinical Severity | mild | |||
| Comments | ||||
| Reference | Unpublished Submission | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 999(H1H1) 998(M1M1) | |
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 | |||||||||||
| 1 | 1 | Heterozygous | Point | Promoter | 5' Flanking | c.-96C>T | cccctccccc>ccccttcccc | 0 | 0 | |||
| 42 | 12 | Heterozygous | Point | Intronic | Intron 5 | c.430+1G>A | GC gt>GC at | 0 | 0 | Splice Junction | ||
| 990 | 89 | 0.31 | Heterozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||