ISL1
ISL LIM homeobox 1
Summary
This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372177290 | 5:50,680,384 | T/A | — | uncertain significance |
| rs369145747 | 5:50,680,394 | A/G | — | likely benign |
| rs755382547 | 5:50,680,483 | C/G | — | uncertain significance |
| rs370285464 | 5:50,683,320 | A/G | — | likely benign |
| rs1747374071 | 5:50,683,321 | C/T | — | likely benign |
| rs376610562 | 5:50,683,381 | G/A | — | likely benign |
| rs1376963153 | 5:50,683,442 | C/G | — | uncertain significance |
| rs1355500246 | 5:50,683,450 | C/T | — | likely benign |
| rs1273919502 | 5:50,683,472 | C/T | — | uncertain significance |
| rs754133508 | 5:50,683,513 | G/T | — | likely benign |
| rs747357265 | 5:50,683,533 | C/G | — | uncertain significance |
| rs200172777 | 5:50,683,541 | C/A | — | likely benign |
| rs772015386 | 5:50,683,550 | C/G | — | uncertain significance |
| rs368770808 | 5:50,683,564 | G/T | — | likely benign |
| rs2303750 | 5:50,685,476 | G/A | — | uncertain significance |
| rs2303751 | 5:50,685,505 | A/G | synonymous variant | benign |
| rs121913540 | 5:50,685,514 | G/A | synonymous variant | benign |
| rs1455600650 | 5:50,685,527 | A/G | — | uncertain significance |
| rs200209474 | 5:50,685,542 | A/T | — | uncertain significance |
| rs121913541 | 5:50,685,568 | C/T | — | benign |
| rs766791220 | 5:50,685,583 | C/T | — | likely benign |
| rs376320342 | 5:50,685,623 | G/T | — | uncertain significance |
| rs2546180403 | 5:50,685,637 | G/A | — | likely benign |
| rs199639357 | 5:50,685,716 | C/A | — | likely benign |
| rs121912286 | 5:50,685,756 | A/G | — | uncertain significance |
| rs202190389 | 5:50,687,098 | C/T | — | likely benign |
| rs1561208602 | 5:50,687,107 | G/A | — | uncertain significance |
| rs780007452 | 5:50,687,122 | G/A | — | uncertain significance |
| rs746421159 | 5:50,687,175 | A/G | — | uncertain significance |
| rs761507339 | 5:50,687,191 | A/T | — | uncertain significance |
| rs751441737 | 5:50,687,211 | C/T | — | uncertain significance |
| rs41268419 | 5:50,687,227 | C/T | — | benign |
| rs372119962 | 5:50,687,228 | G/A | — | uncertain significance |
| rs758563961 | 5:50,687,249 | A/C | — | uncertain significance |
| rs772384999 | 5:50,689,351 | G/A | — | likely benign |
| rs199961324 | 5:50,689,379 | G/A | — | uncertain significance |
| rs777967995 | 5:50,689,413 | A/G | — | uncertain significance |
| rs772530855 | 5:50,689,417 | C/T | — | likely benign |
| rs1747567535 | 5:50,689,418 | A/G | — | uncertain significance |
| rs1017 | 5:50,690,095 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.