LHX3
LIM homeobox 3
Summary
This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Known Variants407 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1564280053 | 9:139,088,108 | G/A | — | uncertain significance |
| rs569655668 | 9:139,088,140 | T/C | — | uncertain significance |
| rs886063695 | 9:139,088,215 | G/A | — | uncertain significance |
| rs886063696 | 9:139,088,314 | G/A | — | uncertain significance |
| rs3739470 | 9:139,088,346 | G/T | — | benign |
| rs12237402 | 9:139,088,380 | C/T | — | likely benign |
| rs572411652 | 9:139,088,381 | G/A | — | uncertain significance |
| rs4842130 | 9:139,088,391 | A/G | — | uncertain significance |
| rs148781569 | 9:139,088,398 | C/T | — | uncertain significance |
| rs146752425 | 9:139,088,424 | G/C | — | likely benign |
| rs1831495385 | 9:139,088,452 | G/A | — | uncertain significance |
| rs1831495471 | 9:139,088,456 | G/T | — | uncertain significance |
| rs1831495899 | 9:139,088,479 | G/A | — | uncertain significance |
| rs374699388 | 9:139,088,533 | C/A | — | uncertain significance |
| rs191713062 | 9:139,088,534 | A/G | — | uncertain significance |
| rs879304888 | 9:139,088,589 | C/T | — | uncertain significance |
| rs1588623321 | 9:139,088,601 | G/T | — | uncertain significance |
| rs886063697 | 9:139,088,617 | G/A | — | uncertain significance |
| rs545939943 | 9:139,088,653 | C/T | — | uncertain significance |
| rs369945393 | 9:139,088,654 | G/A | — | uncertain significance |
| rs886063698 | 9:139,088,670 | T/A | — | uncertain significance |
| rs150382420 | 9:139,088,715 | C/T | — | uncertain significance |
| rs1013764402 | 9:139,088,734 | C/T | — | uncertain significance |
| rs886063699 | 9:139,088,762 | C/A | — | uncertain significance |
| rs919677270 | 9:139,088,768 | A/G | — | uncertain significance |
| rs886063700 | 9:139,088,814 | C/T | — | uncertain significance |
| rs1040969252 | 9:139,088,862 | G/A | — | uncertain significance |
| rs1252042714 | 9:139,088,934 | C/T | — | uncertain significance |
| rs144976921 | 9:139,088,986 | A/T | — | benign |
| rs886063701 | 9:139,089,010 | G/T | — | uncertain significance |
| rs1181863841 | 9:139,089,031 | C/T | — | uncertain significance |
| rs543364659 | 9:139,089,116 | C/T | — | uncertain significance |
| rs771392788 | 9:139,089,139 | C/T | — | uncertain significance |
| rs776792156 | 9:139,089,140 | G/C | — | uncertain significance |
| rs369623778 | 9:139,089,162 | G/A | — | uncertain significance |
| rs2131029624 | 9:139,089,180 | A/G | — | likely benign |
| rs778744260 | 9:139,089,183 | G/A | — | likely benign |
| rs2131029647 | 9:139,089,189 | T/C | — | likely benign |
| rs777142298 | 9:139,089,195 | A/T | — | uncertain significance |
| rs886044531 | 9:139,089,204 | G/A | — | uncertain significance |
| rs1831514780 | 9:139,089,207 | G/C | — | likely benign |
| rs373487851 | 9:139,089,209 | C/T | — | uncertain significance |
| rs377653669 | 9:139,089,210 | G/A | — | likely benign |
| rs1240459171 | 9:139,089,216 | G/T | — | likely benign |
| rs540948834 | 9:139,089,217 | G/A | — | uncertain significance |
| rs2490903179 | 9:139,089,219 | A/G | — | likely benign |
| rs2490903210 | 9:139,089,225 | G/A | — | likely benign |
| rs763085617 | 9:139,089,227 | C/T | — | uncertain significance |
| rs375094960 | 9:139,089,228 | G/A | — | likely benign |
| rs753792122 | 9:139,089,240 | G/A | — | likely benign |
| rs754865914 | 9:139,089,243 | G/A | — | likely benign |
| rs2490903349 | 9:139,089,246 | C/A | — | likely benign |
| rs1395227243 | 9:139,089,249 | C/T | — | likely benign |
| rs765110679 | 9:139,089,250 | G/A | — | uncertain significance |
| rs752464294 | 9:139,089,253 | G/A | — | uncertain significance |
| rs2490903404 | 9:139,089,255 | T/C | — | likely benign |
| rs777355003 | 9:139,089,261 | A/G | — | likely benign |
| rs886063702 | 9:139,089,273 | G/A | — | conflicting classifications of pathogenicity |
| rs756762698 | 9:139,089,275 | T/A | — | uncertain significance |
| rs1564281068 | 9:139,089,280 | G/A | — | uncertain significance |
| rs370781523 | 9:139,089,286 | A/G | — | uncertain significance |
| rs770214672 | 9:139,089,288 | C/T | — | likely benign |
| rs559100871 | 9:139,089,293 | T/G | — | uncertain significance |
| rs1166382508 | 9:139,089,294 | G/A | — | likely benign |
| rs1019994096 | 9:139,089,297 | T/C | — | likely benign |
| rs919774413 | 9:139,089,300 | G/A | — | likely benign |
| rs749541215 | 9:139,089,301 | G/A | — | uncertain significance |
| rs768714703 | 9:139,089,303 | C/T | — | likely benign |
| rs774517354 | 9:139,089,305 | C/T | — | uncertain significance |
| rs1373704775 | 9:139,089,306 | G/A | — | likely benign |
| rs761836187 | 9:139,089,309 | G/A | — | likely benign |
| rs1186086532 | 9:139,089,313 | G/A | — | uncertain significance |
| rs1308108057 | 9:139,089,315 | T/A | — | likely benign |
| rs767679122 | 9:139,089,318 | C/T | — | likely benign |
| rs2131030025 | 9:139,089,321 | G/A | — | likely benign |
| rs1253361965 | 9:139,089,330 | G/T | — | likely benign |
| rs533189010 | 9:139,089,335 | A/G | — | likely benign |
| rs2131030062 | 9:139,089,339 | G/A | — | likely benign |
| rs1260618703 | 9:139,089,341 | T/C | — | uncertain significance |
| rs2490903822 | 9:139,089,342 | G/A | — | likely benign |
| rs1171891285 | 9:139,089,345 | T/C | — | likely benign |
| rs1831521311 | 9:139,089,348 | G/A | — | likely benign |
| rs888599367 | 9:139,089,362 | A/G | — | uncertain significance |
| rs2131030143 | 9:139,089,369 | G/A | — | likely benign |
| rs1052867249 | 9:139,089,371 | G/T | — | uncertain significance |
| rs752480970 | 9:139,089,372 | C/T | — | likely benign |
| rs2490904008 | 9:139,089,375 | G/C | — | likely benign |
| rs1232552009 | 9:139,089,378 | G/T | — | likely benign |
| rs2490904117 | 9:139,089,390 | C/T | — | likely benign |
| rs1003988582 | 9:139,089,393 | C/T | — | likely benign |
| rs763696216 | 9:139,089,395 | G/A | — | uncertain significance |
| rs551180434 | 9:139,089,399 | G/A | — | conflicting classifications of pathogenicity |
| rs201356862 | 9:139,089,401 | C/T | — | conflicting classifications of pathogenicity |
| rs780677082 | 9:139,089,402 | G/A | — | likely benign |
| rs2131030278 | 9:139,089,405 | G/A | — | likely benign |
| rs746383801 | 9:139,089,408 | T/G | — | likely benign |
| rs756558732 | 9:139,089,409 | G/T | — | uncertain significance |
| rs749578356 | 9:139,089,413 | G/T | — | uncertain significance |
| rs769030989 | 9:139,089,414 | G/A | — | likely benign |
| rs886063703 | 9:139,089,419 | C/G | — | uncertain significance |
Showing 100 of 407 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.