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)![]() |
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 | Point | Missense | Exon 8 | c.1085G>A | AGC AAC | 362 | 322 | p.(Ser362Asn) | Serine Protease |