Variant ID: 192 |
cDNA Change | c.547G>T |
---|---|---|
Amino Acid Change | p.Asp183Tyr (Legacy AA No. 123) | |
Type | Point | |
Effect | Missense | |
Domain | EGF2 | |
Sequence Context | TAC > GAC | |
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 | |||||||
751 | 2 | Heterozygous | <1 | <1 | Mild | D'Andrea et al 2004 |