Variant ID: 178 |
cDNA Change | c.265G>A |
---|---|---|
Amino Acid Change | p.Glu89Lys (Legacy AA No. 29) | |
Type | Point | |
Effect | Missense | |
Domain | Gla | |
Sequence Context | AAG > GAG | |
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 | |||||||
426 | 2 | Heterozygous | 0_<2 | UK | Severe | Hewitt et al 2005 |