SMARCC1
SWI/SNF related BAF chromatin remodeling complex subunit C1
Summary
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2546668355 | 3:47,629,781 | T/C | — | uncertain significance |
| rs3772406 | 3:47,629,793 | G/T | — | uncertain significance |
| rs139202319 | 3:47,632,160 | T/C | — | uncertain significance |
| rs1258330668 | 3:47,632,262 | C/G | — | uncertain significance |
| rs201335646 | 3:47,632,276 | C/T | — | uncertain significance |
| rs1174067873 | 3:47,632,306 | G/C | — | uncertain significance |
| rs575032615 | 3:47,638,657 | A/G | — | — |
| rs2032541460 | 3:47,651,586 | G/A | — | uncertain significance |
| rs200178747 | 3:47,651,629 | C/A | — | uncertain significance |
| rs2032544150 | 3:47,651,715 | G/C | — | uncertain significance |
| rs777847627 | 3:47,651,753 | T/C | — | uncertain significance |
| rs2032544981 | 3:47,651,772 | G/A | — | uncertain significance |
| rs369706664 | 3:47,651,825 | C/G | — | likely benign |
| rs62262084 | 3:47,653,822 | C/T | regulatory region variant | — |
| rs883662 | 3:47,660,832 | C/G | intron variant | — |
| rs1277005296 | 3:47,663,711 | T/C | — | uncertain significance |
| rs146336326 | 3:47,663,822 | C/A | — | uncertain significance |
| rs12497826 | 3:47,669,549 | A/C | — | — |
| rs185974677 | 3:47,675,307 | C/T | intron variant | — |
| rs1576394343 | 3:47,676,727 | C/T | — | uncertain significance |
| rs1019198497 | 3:47,676,735 | C/T | — | uncertain significance |
| rs751400015 | 3:47,676,793 | A/G | — | uncertain significance |
| rs62262088 | 3:47,676,861 | T/C | intron variant | — |
| rs2549163215 | 3:47,677,572 | C/T | — | uncertain significance |
| rs1576395533 | 3:47,680,213 | A/G | — | uncertain significance |
| rs971969263 | 3:47,680,224 | C/T | — | likely benign |
| rs4858847 | 3:47,699,427 | C/T | — | — |
| rs2549171890 | 3:47,702,786 | A/G | — | uncertain significance |
| rs201462120 | 3:47,702,865 | C/T | — | likely benign |
| rs761674987 | 3:47,702,868 | G/A | — | conflicting classifications of pathogenicity |
| rs764145318 | 3:47,702,873 | G/C | — | uncertain significance |
| rs750101620 | 3:47,702,927 | C/T | — | uncertain significance |
| rs757920421 | 3:47,702,928 | G/A | — | uncertain significance |
| rs750711915 | 3:47,703,854 | C/T | — | uncertain significance |
| rs1456058921 | 3:47,704,027 | C/T | — | uncertain significance |
| rs145004833 | 3:47,717,057 | G/A | — | likely benign |
| rs2549178064 | 3:47,718,121 | G/A | — | risk factor |
| rs757399962 | 3:47,718,170 | T/C | — | benign |
| rs370919273 | 3:47,718,209 | G/A | — | likely benign |
| rs772639741 | 3:47,718,241 | C/T | — | uncertain significance |
| rs1576408057 | 3:47,718,267 | T/G | — | likely pathogenic |
| rs2549178858 | 3:47,719,687 | C/T | — | risk factor |
| rs1363461361 | 3:47,727,611 | C/G | — | uncertain significance |
| rs2549182188 | 3:47,727,615 | G/A | — | uncertain significance |
| rs2033719485 | 3:47,727,620 | A/G | — | uncertain significance |
| rs959132465 | 3:47,727,641 | T/C | — | uncertain significance |
| rs1196922188 | 3:47,727,642 | T/G | — | uncertain significance |
| rs149296545 | 3:47,742,824 | T/A | — | uncertain significance |
| rs766032777 | 3:47,747,921 | G/A | — | uncertain significance |
| rs147555056 | 3:47,747,930 | T/C | — | likely benign |
| rs184362616 | 3:47,747,938 | G/A | — | uncertain significance |
| rs558674732 | 3:47,747,941 | G/A | — | uncertain significance |
| rs746702299 | 3:47,747,945 | G/A | — | uncertain significance |
| rs2549189964 | 3:47,747,972 | G/A | — | likely pathogenic |
| rs189534174 | 3:47,747,994 | A/G | — | likely benign |
| rs372364849 | 3:47,752,289 | T/C | — | uncertain significance |
| rs116415539 | 3:47,754,494 | T/C | intron variant | — |
| rs780039611 | 3:47,755,939 | A/G | — | uncertain significance |
| rs2549194886 | 3:47,762,216 | A/C | — | uncertain significance |
| rs184251353 | 3:47,770,519 | G/A | — | likely benign |
| rs2549197661 | 3:47,770,536 | A/G | — | uncertain significance |
| rs138395557 | 3:47,770,559 | T/C | — | uncertain significance |
| rs201513443 | 3:47,777,517 | C/G | — | likely benign |
| rs780153138 | 3:47,777,531 | C/T | — | uncertain significance |
| rs1576426439 | 3:47,777,565 | T/A | — | likely pathogenic |
| rs116500579 | 3:47,777,612 | T/C | — | benign |
| rs376781607 | 3:47,779,599 | G/A | — | uncertain significance |
| rs746514755 | 3:47,787,450 | C/T | — | likely benign |
| rs989789813 | 3:47,787,479 | T/C | — | uncertain significance |
| rs149666330 | 3:47,814,326 | G/A | — | uncertain significance |
| rs1028613220 | 3:47,814,336 | C/A | — | uncertain significance |
| rs753360735 | 3:47,823,097 | T/C | — | uncertain significance |
| rs1269050085 | 3:47,823,127 | G/A | — | uncertain significance |
| rs146832470 | 3:47,823,153 | G/A | — | likely benign |
| rs539360692 | 3:47,823,217 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.