INS-IGF2
INS-IGF2 readthrough
Summary
This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1234730342 | 11:2,168,855 | C/T | — | likely benign |
| rs1211857236 | 11:2,168,861 | G/C | — | uncertain significance |
| rs375522759 | 11:2,168,864 | C/T | — | uncertain significance |
| rs2495684986 | 11:2,168,985 | G/C | — | uncertain significance |
| rs542049186 | 11:2,168,989 | G/T | — | uncertain significance |
| rs368323611 | 11:2,169,018 | C/T | — | uncertain significance |
| rs1400305788 | 11:2,169,035 | C/T | — | uncertain significance |
| rs1860164259 | 11:2,170,385 | A/C | — | likely benign |
| rs1281572845 | 11:2,170,396 | A/G | — | conflicting classifications of pathogenicity |
| rs1445948742 | 11:2,170,411 | C/G | — | uncertain significance |
| rs1860168345 | 11:2,170,426 | T/G | — | uncertain significance |
| rs2495697785 | 11:2,170,438 | T/C | — | uncertain significance |
| rs2495698808 | 11:2,170,551 | G/C | — | uncertain significance |
| rs7924316 | 11:2,173,447 | T/G | regulatory region variant | — |
| rs2000993 | 11:2,178,616 | C/G | — | — |
| rs3842770 | 11:2,178,670 | G/A | downstream gene variant | — |
| rs3842763 | 11:2,179,204 | G/C | — | — |
| rs3842761 | 11:2,179,352 | G/A | — | — |
| rs145038693 | 11:2,182,047 | G/A | — | pathogenic |
| rs2495755969 | 11:2,182,057 | A/G | — | uncertain significance |
| rs748696269 | 11:2,182,150 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.