Case ID: 202 | ||||
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FX:C% (extrinsic) | ||||
FX:C% (intrinsic) | ||||
FX:C% (RVV) | ||||
FX:C% (unknown method) | 10 | |||
FX:Ag% | 42 | |||
Reported Bleeding Severity | Severe | |||
Case Gender | Male | |||
Comments on Case | also has homozygous FVII C370F (<1% FVII:C) which is likely clinically contributory; severe lifelong bleeding symptoms including muscle haematomas and frequent haemorrhages; consanguineous parents | |||
Functional Analysis | ||||
Analysis Type | ||||
Reference | Menegatti et al 2004 |
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 | ||||||||||||||
23 | 4 | TBA | Homozygous | Point | Missense | Exon 2 | c.128C>G | TCC TGC | 43 | 3 | p.(Ser43Cys) | Gla |