LMOD1
leiomodin 1
Summary
The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1681246206 | 1:201,868,372 | A/G | — | uncertain significance |
| rs2526826218 | 1:201,868,442 | G/A | — | uncertain significance |
| rs1233176003 | 1:201,868,465 | T/C | — | uncertain significance |
| rs202184893 | 1:201,868,510 | G/T | — | uncertain significance |
| rs370852373 | 1:201,868,614 | T/C | — | likely benign |
| rs200281666 | 1:201,868,637 | C/T | — | uncertain significance |
| rs761546227 | 1:201,868,649 | C/A | — | uncertain significance |
| rs1363706242 | 1:201,868,708 | C/T | — | uncertain significance |
| rs1681258378 | 1:201,868,719 | C/G | — | uncertain significance |
| rs1487322841 | 1:201,868,879 | C/T | — | pathogenic |
| rs759999105 | 1:201,868,916 | G/A | — | uncertain significance |
| rs772006489 | 1:201,869,028 | G/A | — | likely benign |
| rs777696417 | 1:201,869,033 | G/A | — | pathogenic |
| rs1196609413 | 1:201,869,035 | G/A | — | pathogenic |
| rs1228973026 | 1:201,869,102 | T/A | — | uncertain significance |
| rs1219690493 | 1:201,869,132 | C/T | — | uncertain significance |
| rs373771006 | 1:201,869,144 | T/C | — | uncertain significance |
| rs2526827785 | 1:201,869,146 | A/G | — | uncertain significance |
| rs752738180 | 1:201,869,150 | C/T | — | uncertain significance |
| rs2820312 | 1:201,869,257 | G/A | missense variant | — |
| rs1270293245 | 1:201,869,258 | T/A | — | uncertain significance |
| rs34071835 | 1:201,869,313 | G/A | — | likely benign |
| rs778525055 | 1:201,869,446 | G/A | — | uncertain significance |
| rs375724138 | 1:201,869,534 | C/G | — | uncertain significance |
| rs369212393 | 1:201,869,563 | C/T | — | uncertain significance |
| rs2526829327 | 1:201,869,621 | T/C | — | uncertain significance |
| rs775016412 | 1:201,869,642 | C/G | — | uncertain significance |
| rs369116037 | 1:201,869,675 | G/A | — | uncertain significance |
| rs374273187 | 1:201,869,680 | A/T | — | uncertain significance |
| rs748248277 | 1:201,869,702 | C/T | — | uncertain significance |
| rs35110687 | 1:201,869,716 | C/T | — | benign |
| rs200617736 | 1:201,869,724 | A/T | — | likely benign |
| rs944182268 | 1:201,869,733 | T/G | — | uncertain significance |
| rs1041202417 | 1:201,869,736 | A/G | — | likely benign |
| rs1277842765 | 1:201,869,740 | A/C | — | uncertain significance |
| rs559672115 | 1:201,869,792 | G/A | — | uncertain significance |
| rs373672791 | 1:201,869,799 | G/A | — | likely benign |
| rs2820315 | 1:201,872,264 | C/T | regulatory region variant | — |
| rs35349183 | 1:201,873,143 | A/G | downstream gene variant | — |
| rs2820322 | 1:201,880,300 | T/C | intron variant | — |
| rs2819347 | 1:201,884,288 | C/G | regulatory region variant | — |
| rs4309038 | 1:201,884,647 | G/A | — | — |
| rs2819348 | 1:201,884,952 | T/G | — | — |
| rs12137232 | 1:201,885,446 | G/A | — | — |
| rs201807336 | 1:201,915,259 | G/C | — | uncertain significance |
| rs192622608 | 1:201,915,294 | A/G | — | uncertain significance |
| rs778903402 | 1:201,915,319 | C/T | — | likely benign |
| rs747977296 | 1:201,915,324 | G/T | — | uncertain significance |
| rs200871425 | 1:201,915,330 | C/T | — | uncertain significance |
| rs61734404 | 1:201,915,336 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.