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Case ID: 408 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 1.2 | ||||
| FVII:Ag% | 21 | |||
| Reported Clinical Severity | asymptomatic | |||
| 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| Reference | Unpublished Submission | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 999(H1H1) 998(M1M1) | |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 | |||||||||||
| 23 | 2 | Heterozygous | Point | Missense | Exon 3 | c.253G>A | GAG>AAG | 85 | 25 | p.Glu85Lys | Gla | |
| 115 | 13 | 2.57E-5 | Heterozygous | Point | Missense | Exon 9 | c.1224T>G | CAT>CAG | 408 | 348 | p.His408Gln | Serine Protease |
| 990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||