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Variant (rsID / SNP)

rs193922362

JAK3

rs193922362 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAK3. Location: chromosome 19, position 17,947,957. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

JAK3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:17947957
Cytoband
19p13.11
HGVS
NM_000215.4(JAK3):c.1767C>T (p.Gly589=)
Allele change
Synonymous_G589G

Associated conditions / phenotypes

Severe combined immunodeficiency disease|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.