Variant (rsID / SNP)
rs1494555
rs1494555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL7R. Location: chromosome 5, position 35,871,190. Clinical significance in the table: Benign.
Reference-table entries
IL7RBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:35871190
- Cytoband
- 5p13.2
- HGVS
- NM_002185.5(IL7R):c.412G>A (p.Val138Ile)
- Allele change
- Missense_V138I
Associated conditions / phenotypes
Immunodeficiency 104
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
