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Case ID: 626 | ||||
|---|---|---|---|---|
| FX:C% (extrinsic) | ||||
| FX:C% (intrinsic) | ||||
| FX:C% (RVV) | ||||
| FX:C% (unknown method) | 1 | |||
| FX:Ag% | 58 | |||
| Reported Bleeding Severity | Asymptomatic | |||
| Case Gender | Male | |||
| Comments on Case | ||||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Lu et al 2021 | |||
The details of the variants found in this case are listed below
| Variant ID | No. of Cases | Minor Allele Frequency | Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
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 | ||||||||||||||
| 131 | 9 | TBA | Defective secretion and function of recombinant variant (Zhang 2020) | Heterozygous | Paternal | Point | Missense | Exon 8 | c.1085G>A | AGC AAC | 362 | 322 | p.(Ser362Asn) | Serine Protease | |
| 147 | 4 | 4.0E-6 | TBA | Heterozygous | Maternal | Point | Nonsense | Exon 8 | c.1152C>A | TAC TAA | 384 | 344 | p.(Tyr384*) | Serine Protease | |