Gene entry
ZAP70
zeta chain of T cell receptor associated protein kinase 70
- Chromosome
- 2
- Cytoband
- 2q11.2
- Variants (rsID)
- 12
ZAP70 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q11.2). Its official name is “zeta chain of T cell receptor associated protein kinase 70”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs145955907Benignsingle nucleotide variantZAP70-Related Severe Combined Immunodeficiency
- rs199840952Conflicting interpretationssingle nucleotide variantCombined immunodeficiency|Autoimmune disease, multisystem, infantile-onset, 2|Combined immunodeficiency due to ZAP70 deficiency|ZAP70-Related Severe Combined Immunodeficiency
- rs730880318Pathogenicsingle nucleotide variantCombined immunodeficiency due to ZAP70 deficiency|ZAP70-Related Severe Combined Immunodeficiency
- rs869025224Pathogenicsingle nucleotide variantCombined immunodeficiency|Autoimmune disease, multisystem, infantile-onset, 2|Combined immunodeficiency due to ZAP70 deficiency
- rs137853201Uncertain significancesingle nucleotide variantCombined immunodeficiency due to ZAP70 deficiency|ZAP70-Related Severe Combined Immunodeficiency
- rs201003454Uncertain significancesingle nucleotide variantZAP70-Related Severe Combined Immunodeficiency
- rs113994174Not classifiedsingle nucleotide variantCombined immunodeficiency due to ZAP70 deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.