|
Variant ID: 136 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.1097G>A |
| Amino Acid Change | p.(Arg366His) (Legacy AA No. 326) | |
| Domain | Serine Protease | |
| Sequence Context | CGC > CAC | |
| Location | Exon 8 | |
| Minor Allele Frequency (MAF) | 3.2E-5 | |
| Pathogenicity (ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic | ||
| Comments on Variant |
For missense variants click
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to view amino-acid sequence comparison.
The details of the cases reported with the above variant are listed below
| Case ID | Other Variants found in case |
Genotype | FX:C (%) intrinsic | FX:C (%) extrinsic | FX:C (%) RVV | FX:C (%) unknown | FX:Ag (%) | Reported Bleeding Severity |
Gender of Case | Published Reference | Comments on Case |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 485 | Not Reported | Not Reported | Not Reported | Rath et al 2015 |