Information on subject 101387
Basic details
Sex: Male
Country:
Population: German
Consanguinity: No
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2021 [118] Fam.F136:P136
Genetic conditions
Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
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Genetic variants
Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
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Clinical manifestations
Cell counts
Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
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* Measured under treatment or HSCT.
Plasma proteins
Age | Molecule[ℹ] | Value | Ref.range | Result |
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[ℹ] shows name on hover
* Measured during IVIG or other treatment.
Phenotypic & functional assays
Age | Parameter[ℹ] | Result* | Cells | Methods[ℹ] | Stimuli | Ref. |
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[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover