Variant (rsID / SNP)

rs145955907

rs145955907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZAP70. Location: chromosome 2, position 98,341,616. Clinical significance in the table: Benign.

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Reference-table entries

ZAP70Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:98341616
Cytoband: 2q11.2
HGVS: NM_001079.4(ZAP70):c.464C>T (p.Thr155Met)
Allele change: Missense_T155M

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.