Variant (rsID / SNP)

rs730880318

rs730880318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZAP70. Location: chromosome 2, position 98,354,447. Clinical significance in the table: Pathogenic.

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Reference-table entries

ZAP70Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:98354447
Cytoband: 2q11.2
HGVS: NM_001079.4(ZAP70):c.1624-11G>A
Allele change: Silent

Associated conditions / phenotypes

Combined immunodeficiency due to ZAP70 deficiency|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.