Variant (rsID / SNP)

rs193922348

rs193922348 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL2RG. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

IL2RGPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)
Allele change: Missense_V152A

Associated conditions / phenotypes

X-linked severe combined immunodeficiency

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.