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Variant (rsID / SNP)

rs199840952

ZAP70

rs199840952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZAP70. Location: chromosome 2, position 98,349,356. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ZAP70Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:98349356
Cytoband
2q11.2
HGVS
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp)
Allele change
Missense_R192W

Associated conditions / phenotypes

Combined immunodeficiency|Autoimmune disease, multisystem, infantile-onset, 2|Combined immunodeficiency due to ZAP70 deficiency|ZAP70-Related Severe Combined Immunodeficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.