Variant (rsID / SNP)

rs193922641

rs193922641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL7R. Location: chromosome 5, position 35,867,539. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IL7RPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:35867539
Cytoband: 5p13.2
HGVS: NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)
Allele change: Missense_C118Y

Associated conditions / phenotypes

Severe combined immunodeficiency disease|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.