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Case ID: 623 | ||||
|---|---|---|---|---|
| FX:C% (extrinsic) | 58 | |||
| FX:C% (intrinsic) | ||||
| FX:C% (RVV) | ||||
| FX:C% (unknown method) | ||||
| FX:Ag% | 52 | |||
| Reported Bleeding Severity | Asymptomatic | |||
| Case Gender | Male | |||
| Comments on Case | Father of cases 621 and 622 | |||
| Functional Analysis | Yes | |||
| Analysis Type | Recombinant variant expression; functional analysis and molecular modelling | |||
| Reference | Zhang et al 2020 | |||
The details of the variants found in this case are listed below
| Variant ID | No. of Cases | Minor Allele Frequency | Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely 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 | Defective secretion and function of recombinant variant (Zhang 2020) | Heterozygous | Point | Missense | Exon 8 | c.1085G>A | AGC AAC | 362 | 322 | p.(Ser362Asn) | Serine Protease | |||