HMGA1
high mobility group AT-hook 1
Summary
This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs55692303 | 6:34,202,879 | C/T | — | — |
| rs115177000 | 6:34,203,893 | G/T | — | — |
| rs6937622 | 6:34,204,285 | G/T | — | — |
| rs191720756 | 6:34,204,286 | G/A | regulatory region variant | — |
| rs532749103 | 6:34,204,854 | C/G | — | — |
| rs945712382 | 6:34,205,272 | G/A | — | — |
| rs370788671 | 6:34,205,465 | G/C | — | — |
| rs116882763 | 6:34,205,532 | G/T | regulatory region variant | — |
| rs118012224 | 6:34,205,822 | T/G | — | — |
| rs186006155 | 6:34,205,823 | A/G | regulatory region variant | — |
| rs76863928 | 6:34,207,474 | T/A | — | — |
| rs762816581 | 6:34,208,568 | C/T | — | uncertain significance |
| rs1285686937 | 6:34,208,586 | A/G | — | uncertain significance |
| rs11266792 | 6:34,208,614 | C/T | — | benign |
| rs143690346 | 6:34,208,659 | G/A | — | likely benign |
| rs41269026 | 6:34,208,773 | C/G | — | — |
| rs4713761 | 6:34,209,281 | T/A | downstream gene variant | — |
| rs41269028 | 6:34,211,238 | C/T | splice region variant | — |
| rs1150782 | 6:34,213,868 | A/G | regulatory region variant | — |
| rs1150781 | 6:34,214,322 | C/T | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.