Variant (rsID / SNP)
rs113994174
rs113994174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZAP70. Location: chromosome 2, position 98,354,039. The table records no clinical significance for this variant.
Reference-table entries
ZAP70Not classified
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:98354039
- Cytoband
- 2q11.2
- HGVS
- NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys)
- Allele change
- Missense_R465C
Associated conditions / phenotypes
Combined immunodeficiency due to ZAP70 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.