Variant (rsID / SNP)

rs193922361

rs193922361 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAK3. Location: chromosome 19, position 17,947,980. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

JAK3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:17947980
Cytoband: 19p13.11
HGVS: NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)
Allele change: Missense_R582W

Associated conditions / phenotypes

Severe combined immunodeficiency disease|T-B+ severe combined immunodeficiency due to JAK3 deficiency

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.