Case ID: 682 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
30_<50 | ||||
FVII:Ag% | UK | |||
Reported Clinical Severity | Mild | |||
Comments | ||||
Reference | Pavlova et al 2015 | 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 | |||||||||||
180 | 1 | Heterozygous | Deletion | Frameshift | Exon 4 | c.292_1401del | 98 | 38 | ???? | Gla | ||
201 | 1 | 0.001518 | Heterozygous | Point | Intronic | Intron 1 | c.65-3C>T | 0 | 0 |