Variant (rsID / SNP)

rs201003454

rs201003454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZAP70. Location: chromosome 2, position 98,354,293. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ZAP70Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:98354293
Cytoband: 2q11.2
HGVS: NM_001079.4(ZAP70):c.1556G>A (p.Arg519His)
Allele change: Missense_R519H

Associated conditions / phenotypes

ZAP70-Related Severe Combined Immunodeficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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