Variant (rsID / SNP)
rs193922642
rs193922642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL7R. Location: chromosome 5, position 35,873,583. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
IL7RConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:35873583
- Cytoband
- 5p13.2
- HGVS
- NM_002185.5(IL7R):c.539A>C (p.His180Pro)
- Allele change
- Missense_H180P
Associated conditions / phenotypes
Severe combined immunodeficiency disease|Immunodeficiency 104
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.