Variant (rsID / SNP)
rs3194051
rs3194051 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL7R. Location: chromosome 5, position 35,876,274. Clinical significance in the table: Benign.
Reference-table entries
IL7RBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:35876274
- Cytoband
- 5p13.2
- HGVS
- NM_002185.5(IL7R):c.1066A>G (p.Ile356Val)
- Allele change
- Missense_I356V
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.