|
Variant ID: 39 |
cDNA Change | c.413G>A |
|---|---|---|
| Amino Acid Change | p.Gly138Asp (Legacy AA No. 78) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF1 | |
| Sequence Context | GGC > GAC | |
| Location | Exon( 5) | |
| 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 | |||||||
| 388 | 6 | Heterozygous | 32 | Severe | Unpublished Submission | Three FVII lesions were analysed in family studies.Genotype is: Leu13 Gln;Ala294 Val (double mutation) and Gly78 Asp | |||
| 413 | 6 | Heterozygous | 28 | Mild | Unpublished Submission | ||||
| 563 | 2 | Heterozygous | 1 | UK | Severe | Herrmann et al 2009 | |||
| 568 | 3 | Heterozygous | <1 | UK | Severe | Herrmann et al 2009 | |||