GTF2IRD2
GTF2I repeat domain containing 2
Summary
This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12375120 | 7:74,211,705 | G/A | — | benign |
| rs707404 | 7:74,220,751 | C/G | — | — |
| rs202209188 | 7:74,227,651 | C/T | — | — |
| rs800997 | 7:74,227,892 | T/C | — | — |
| rs1407166470 | 7:74,234,124 | G/A | — | likely benign |
| rs1183463546 | 7:74,234,514 | A/G | — | uncertain significance |
| rs1554418470 | 7:74,234,520 | G/T | — | uncertain significance |
| rs801011 | 7:74,236,723 | C/T | intron variant | — |
| rs1334897032 | 7:74,236,963 | C/T | — | uncertain significance |
| rs202076967 | 7:74,237,203 | G/A | — | conflicting classifications of pathogenicity |
| rs781822681 | 7:74,237,206 | G/A | — | uncertain significance |
| rs782486009 | 7:74,237,207 | C/A | — | uncertain significance |
| rs782285924 | 7:74,237,260 | A/G | — | uncertain significance |
| rs587617748 | 7:74,237,329 | G/A | — | uncertain significance |
| rs782603424 | 7:74,239,488 | A/G | — | uncertain significance |
| rs375511371 | 7:74,239,513 | C/T | — | uncertain significance |
| rs201874591 | 7:74,239,517 | C/C | — | benign |
| rs1169269263 | 7:74,247,957 | G/A | — | uncertain significance |
| rs200003286 | 7:74,251,410 | C/T | — | likely benign |
| rs1554421062 | 7:74,251,433 | A/C | — | uncertain significance |
| rs782191807 | 7:74,251,495 | G/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.