Variant (rsID / SNP)

rs193922640

rs193922640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL7R. Location: chromosome 5, position 35,867,456. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

IL7RLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Duplication
Chromosome / position: 5:35867456
Cytoband: 5p13.2
HGVS: NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)

Associated conditions / phenotypes

Severe combined immunodeficiency disease

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.