Variant (rsID / SNP)

rs193922346

rs193922346 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.270-1G>T
Allele change: Silent

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.