Case ID: 413 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
28 | ||||
FVII:Ag% | ||||
Reported Clinical Severity | Mild | |||
Comments | ||||
Reference | Unpublished Submission | Common Variant Sites tested and found to be as per the reference sequence in both alleles |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 | |||||||||||
39 | 4 | Heterozygous | Point | Missense | Exon 5 | c.413G>A | GGC>GAC | 138 | 78 | p.Gly138Asp | EGF1 | |
68 | 4 | Heterozygous | Point | Missense | Exon 8 | c.761G>A | TGT>TAT | 254 | 194 | p.Cys254Tyr | Serine Protease | |
990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||
994 | 45 | 0.1342 | Heterozygous | Point | Intronic | Intron 8 | c.806-20G>A | 0 | 0 | |||
998 | 116 | 0.1341 | Heterozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |
999 | 64 | 0.1419 | Heterozygous | Point | Silent | Exon 6 | c.525C>T | CAC>CAT | 175 | 115 | p.His175= | EGF2 |