Variant (rsID / SNP)

rs193922364

rs193922364 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAK3. Location: chromosome 19, position 17,953,307. 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: Deletion
Chromosome / position: 19:17953307
Cytoband: 19p13.11
HGVS: NM_000215.4(JAK3):c.678_679del (p.Cys227fs)

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.