Variant ID: 22 |
cDNA Change | c.250_252delTTC |
---|---|---|
Amino Acid Change | p.Phe84del (Legacy AA No. 24) | |
Type | Deletion | |
Effect | Inframe | |
Domain | Gla | |
Sequence Context | del TTC | |
Location | Exon( 3) | |
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 | |||||||
711 | 1 | Homozygous | <1 | 30 | Severe | Tamary et al 2000 | |||
723 | 1 | Homozygous | 0_<2 | 0_<2 | 30 | Severe | Fromovich-Amit et al 2004 |