Variants
IL7R variants
The 15 IL7R variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.83-2A>T | Intron 1 | 35,860,850 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.221+1G>A | Intron 2 | 35,860,991 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.221+2T>G | Intron 2 | 35,860,992 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.537+1G>A | Intron 4 | 35,871,214 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.538-1G>A | Intron 4 | 35,873,479 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C118Y | c.353G>A | Exon 3 | 35,867,437 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E79X | c.235G>T | Exon 3 | 35,867,319 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I121Nfs*8 | c.361dup | Exon 3 | 35,867,438 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K119X | c.355A>T | Exon 3 | 35,867,439 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P132S | c.394C>T | Exon 4 | 35,871,070 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q89X | c.265C>T | Exon 3 | 35,867,349 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R206X | c.616C>T | Exon 5 | 35,873,558 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S221I | c.662G>T | Exon 5 | 35,873,604 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S235X | c.704C>G | Exon 5 | 35,873,646 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V127I | c.379G>A | Exon 3 | 35,867,463 | Pathogenic | 3 stars out of 4 reviewed by expert panel |