Variant (rsID / SNP)

rs587778405

rs587778405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL7R. Location: chromosome 5, position 35,873,706. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

IL7RPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:35873706
Cytoband: 5p13.2
HGVS: NM_002185.5(IL7R):c.662G>T (p.Ser221Ile)
Allele change: Missense_S221I

Associated conditions / phenotypes

Immunodeficiency 104

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.