CCL19
Chr 9C-C motif chemokine ligand 19
CCL19 encodes a CC chemokine that binds to chemokine receptor CCR7 and regulates lymphocyte trafficking, including T-cell and B-cell migration to secondary lymphoid organs and T-cell trafficking in the thymus. Mutations cause autosomal recessive combined immunodeficiency affecting T-cell and B-cell function. This immunodeficiency typically presents in infancy with recurrent infections due to impaired adaptive immune responses.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCL19 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Characterization of Microbiological and Genetic Features in Prostate Cancer and Their Association with Disease Stage
ENROLLING BY INVITATIONGPC3-CAR-T Cells for Immunotherapy of Cancer With GPC3 Expression
RECRUITINGExternal Resources
Links to major genomics databases and tools