Information on subject 101957
Basic details
Sex: Male
Country: Germany
Population:
Consanguinity: No
Clin. status: Suspected
Age of death:
Ref.ID & pub.codes
- 2021 [118] Fam.F391:P391
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
TLR3 |
L297V |
EX4 | c.889C>G | p.Leu297Val | missense_variant | Risk allele | HET |
Uncertain |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Hypogammaglobulinemia |
Yes | ||
| 26.67 | Decreased IgA levels |
No | ||
| 25.67 | Decreased IgG levels |
Yes | mild | |
| 26.67 | Decreased IgM levels |
No | ||
| 25.00 | Sinusitis |
Yes | chronic | |
| 25.00 | Fatigue |
Yes | chronic | |
| 25.00 | (unusual) Epstein-Barr virus infection |
Yes | ||
| 25.00 | Low Zinc levels |
Yes |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|
[ℹ] shows name on hover
* Measured during IVIG or other treatment.
Phenotypic & functional assays
| Age | Parameter[ℹ] | Result* | Cells | Methods[ℹ] | Stimuli | Ref. |
|---|
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover