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)![]() |
TBA | |
Comments on Variant |
For missense variants click
here
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 |