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Reference | Unpublished Submission | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 999(H1H1) 998(M1M1) |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 |