LUC7L
LUC7 like
Summary
The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2505455904 | 16:239,202 | T/C | — | uncertain significance |
| rs1448666847 | 16:239,232 | G/A | — | uncertain significance |
| rs755192001 | 16:239,270 | T/G | — | uncertain significance |
| rs2505456696 | 16:239,307 | A/C | — | uncertain significance |
| rs144081652 | 16:239,321 | G/A | — | uncertain significance |
| rs770266344 | 16:239,976 | G/A | — | uncertain significance |
| rs780398781 | 16:239,982 | C/T | — | uncertain significance |
| rs61743947 | 16:240,000 | C/T | — | likely benign |
| rs144911375 | 16:240,003 | T/C | — | benign |
| rs529265090 | 16:240,022 | G/A | — | uncertain significance |
| rs2048970251 | 16:240,049 | T/C | — | uncertain significance |
| rs756177743 | 16:240,087 | C/T | — | uncertain significance |
| rs1211375 | 16:240,280 | A/T | — | — |
| rs557311052 | 16:242,414 | T/C | — | — |
| rs111775488 | 16:242,898 | G/C | intron variant | — |
| rs746143522 | 16:242,929 | C/T | — | uncertain significance |
| rs755820305 | 16:243,002 | C/T | — | uncertain significance |
| rs2858012 | 16:247,963 | C/T | intron variant | — |
| rs865869983 | 16:248,052 | G/C | — | — |
| rs113186640 | 16:248,325 | T/C | intron variant | — |
| rs552129426 | 16:249,130 | C/T | — | likely benign |
| rs1350229578 | 16:249,542 | T/A | — | — |
| rs530159671 | 16:250,184 | G/A | — | — |
| rs372125612 | 16:255,385 | G/A | — | — |
| rs1203975 | 16:255,852 | T/G | intron variant | — |
| rs148588029 | 16:256,043 | A/G | — | uncertain significance |
| rs1279346659 | 16:256,065 | C/T | — | uncertain significance |
| rs937791904 | 16:256,087 | C/A | — | uncertain significance |
| rs138048746 | 16:256,721 | T/A | intron variant | — |
| rs375888695 | 16:257,877 | G/A | — | — |
| rs140058041 | 16:258,083 | A/T | — | likely benign |
| rs767016442 | 16:258,162 | A/G | — | uncertain significance |
| rs141056928 | 16:258,184 | T/C | missense variant | — |
| rs377221411 | 16:258,970 | G/A | — | — |
| rs1203981 | 16:265,159 | C/G | — | — |
| rs911793100 | 16:265,671 | A/G | — | — |
| rs534626801 | 16:270,650 | C/A | — | uncertain significance |
| rs372591235 | 16:270,674 | C/T | — | uncertain significance |
| rs201028787 | 16:270,724 | G/A | — | uncertain significance |
| rs150392104 | 16:271,698 | T/C | intron variant | — |
| rs181265390 | 16:272,757 | G/A | intron variant | — |
| rs62032206 | 16:273,552 | G/A | — | — |
| rs188132769 | 16:277,399 | G/A | upstream gene variant | — |
| rs183229266 | 16:277,730 | C/T | upstream gene variant | — |
| rs377574098 | 16:279,350 | G/T | regulatory region variant | — |
| rs966965120 | 16:279,723 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.