Variant ID: 188 |
cDNA Change | c.451T>C |
---|---|---|
Amino Acid Change | p.Cys151Arg (Legacy AA No. 91) | |
Type | Point | |
Effect | Missense | |
Domain | EGF2 | |
Sequence Context | CGT > TGT | |
Location | Exon( 6) | |
Minor Allele Frequency (MAF) |
The details of the cases reported with the above variant is as below
Case ID | Other Variants found in case | Genotype | FVII:C (%) | FVII:Ag (%) | Reported Clinical Severity | Reference | Comments | ||
---|---|---|---|---|---|---|---|---|---|
TF-Unknown | TF-Human | TF-Rabbit | |||||||
464 | 1 | Heterozygous | 50 | UK | Marty et al 2008 | Haemorrhages and Thrombosis |