Variant (rsID / SNP)

rs137852624

rs137852624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAK3. Location: chromosome 19, position 17,954,595. Clinical significance in the table: Pathogenic.

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Reference-table entries

JAK3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:17954595
Cytoband: 19p13.11
HGVS: NM_000215.4(JAK3):c.299A>G (p.Tyr100Cys)
Allele change: Missense_Y100C

Associated conditions / phenotypes

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.