Case ID: 480 | ||||
---|---|---|---|---|
FX:C% (extrinsic) | ||||
FX:C% (intrinsic) | ||||
FX:C% (RVV) | ||||
FX:C% (unknown method) | 25 | |||
FX:Ag% | ||||
Reported Bleeding Severity | Not Reported | |||
Case Gender | Not Reported | |||
Comments on Case | Both variants likely to be on same allele | |||
Functional Analysis | ||||
Analysis Type | ||||
Reference | Pavlova et al 2015 |
The details of the variants found in this case are listed below
Variant ID | No. of Cases | Minor Allele Frequency | Pathogenicity (ACMG)![]() |
Comments on individual Variant | Genotype of Variant | Heterozygous Allele | Type | Effect | Location in gene | Variant (cDNA) | Sequence Context | Amino Acid No | Protein Change | Protein Domain | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HGVS | Legacy | ||||||||||||||
139 | 1 | TBA | May be a polymorphism (Pavlova 2015) | Heterozygous | Point | Missense | Exon 8 | c.1107G>T | GAG GAT | 369 | 329 | p.(Glu369Asp) | Serine Protease | ||
140 | 1 | TBA | Heterozygous | Point | Nonsense | Exon 8 | c.1108A>T | AAG TAG | 370 | 330 | p.(Lys370*) | Serine Protease |