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Variant (rsID / SNP)

rs3213409

JAK3

rs3213409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAK3. Location: chromosome 19, position 17,945,696. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

JAK3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:17945696
Cytoband
19p13.11
HGVS
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)
Allele change
Missense_V722I

Associated conditions / phenotypes

Lymphoblastic leukemia, acute, with lymphomatous features|Acute megakaryoblastic leukemia|T-B+ severe combined immunodeficiency due to JAK3 deficiency

Public references

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