Leukemia, acute lymphoblastic, susceptibility to, 3: genes and variants
Leukemia, acute lymphoblastic, susceptibility to, 3 is linked to 1 analyzed protein (PAX5). 1 DNA variants are known to cause it; 11 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Leukemia, acute lymphoblastic, susceptibility to, 3
PAX5: Paired box protein Pax-5
It establishes and maintains B-cell identity by activating B-lineage genes and repressing alternative developmental programs. Somatic loss, mutation, or rearrangement is common in B-cell acute lymphoblastic leukemia, while germline variants can confer leukemia susceptibility and immunodeficiency.
1 disease-causing and 11 uncertain variants in PAX5 are linked to Leukemia, acute lymphoblastic, susceptibility to, 3.
Known disease-causing variants in Leukemia, acute lymphoblastic, susceptibility to, 3
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PAX5 R140Q | 140 | Paired | Disease-causing (★★) |
Same protein, different disease
- Acute lymphoid leukemia is also caused by PAX5 variants; they fall mostly in different places as the Leukemia, acute lymphoblastic, susceptibility to, 3 variants (3 disease-causing).
Diseases related to Leukemia, acute lymphoblastic, susceptibility to, 3
- Acute lymphoid leukemia, also linked to PAX5
Frequently asked questions
Which genes are linked to Leukemia, acute lymphoblastic, susceptibility to, 3?
In CATVariant, Leukemia, acute lymphoblastic, susceptibility to, 3 is linked to 1 analyzed protein: PAX5 (Paired box protein Pax-5).
How many genetic variants are linked to Leukemia, acute lymphoblastic, susceptibility to, 3?
14 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.
Which uncertain variants in Leukemia, acute lymphoblastic, susceptibility to, 3 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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