KLHL1
kelch like family member 1
Summary
The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1244986463 | 13:70,275,848 | T/C | — | uncertain significance |
| rs1223164602 | 13:70,281,799 | G/T | — | uncertain significance |
| rs375642620 | 13:70,281,800 | T/C | — | uncertain significance |
| rs2501237639 | 13:70,281,810 | T/C | — | uncertain significance |
| rs373985895 | 13:70,281,861 | C/A | — | uncertain significance |
| rs1292005490 | 13:70,281,884 | C/T | — | uncertain significance |
| rs2501238349 | 13:70,281,894 | C/A | — | uncertain significance |
| rs1875693651 | 13:70,281,903 | T/C | — | uncertain significance |
| rs140589724 | 13:70,293,522 | C/T | — | uncertain significance |
| rs201140611 | 13:70,293,577 | C/T | — | uncertain significance |
| rs531126589 | 13:70,293,582 | C/T | — | uncertain significance |
| rs530644820 | 13:70,293,625 | C/T | — | uncertain significance |
| rs779537692 | 13:70,314,646 | T/C | — | uncertain significance |
| rs143112784 | 13:70,314,663 | A/C | — | uncertain significance |
| rs536787956 | 13:70,325,475 | G/A | — | — |
| rs773352424 | 13:70,371,036 | C/T | — | uncertain significance |
| rs560667265 | 13:70,413,118 | A/T | — | uncertain significance |
| rs367977794 | 13:70,413,164 | G/A | — | uncertain significance |
| rs2325244 | 13:70,430,093 | C/A | — | — |
| rs11843309 | 13:70,454,960 | C/T | intron variant | — |
| rs7984606 | 13:70,455,661 | A/G | — | — |
| rs1212042339 | 13:70,456,456 | T/C | — | uncertain significance |
| rs2501799359 | 13:70,456,515 | A/T | — | uncertain significance |
| rs754627488 | 13:70,456,539 | T/C | — | uncertain significance |
| rs2501799607 | 13:70,456,552 | T/C | — | uncertain significance |
| rs148383881 | 13:70,486,966 | G/A | intron variant | — |
| rs146080637 | 13:70,507,436 | T/G | intron variant | — |
| rs1414295255 | 13:70,514,177 | T/C | — | uncertain significance |
| rs554145158 | 13:70,514,206 | A/G | — | uncertain significance |
| rs751336229 | 13:70,514,225 | C/A | — | uncertain significance |
| rs777452479 | 13:70,514,230 | G/T | — | uncertain significance |
| rs752916996 | 13:70,514,354 | T/C | — | uncertain significance |
| rs200511679 | 13:70,535,484 | A/G | — | uncertain significance |
| rs775583442 | 13:70,549,839 | G/T | — | uncertain significance |
| rs35781936 | 13:70,549,906 | G/A | — | likely benign |
| rs189862430 | 13:70,549,937 | A/G | — | benign |
| rs367962070 | 13:70,681,368 | G/C | — | uncertain significance |
| rs754740851 | 13:70,681,373 | G/T | — | uncertain significance |
| rs145170424 | 13:70,681,408 | C/T | — | uncertain significance |
| rs75569924 | 13:70,681,460 | T/G | — | benign |
| rs776644824 | 13:70,681,587 | G/C | — | uncertain significance |
| rs372375859 | 13:70,681,588 | G/A | — | uncertain significance |
| rs766532705 | 13:70,681,594 | A/G | — | uncertain significance |
| rs751702187 | 13:70,681,597 | A/C | — | uncertain significance |
| rs3751427 | 13:70,681,598 | T/C | — | benign |
| rs111324959 | 13:70,681,649 | C/G | — | uncertain significance |
| rs1888101265 | 13:70,681,677 | C/T | — | uncertain significance |
| rs139358653 | 13:70,681,733 | C/T | — | likely benign |
| rs753459470 | 13:70,681,737 | G/A | — | uncertain significance |
| rs145694020 | 13:70,681,741 | C/A | — | uncertain significance |
| rs147322205 | 13:70,681,744 | C/T | — | uncertain significance |
| rs191673952 | 13:70,681,745 | G/C | — | likely benign |
| rs781658816 | 13:70,681,746 | G/A | — | uncertain significance |
| rs144867124 | 13:70,681,821 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.