SATB1
SATB homeobox 1
Summary
This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]
Known Variants95 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs202103426 | 3:18,390,686 | G/A | — | uncertain significance |
| rs538508063 | 3:18,390,702 | A/G | — | likely benign |
| rs1329953084 | 3:18,390,736 | G/T | — | uncertain significance |
| rs1196523811 | 3:18,390,760 | C/A | — | uncertain significance |
| rs1481660110 | 3:18,390,798 | T/A | — | uncertain significance |
| rs2470392792 | 3:18,390,804 | G/A | — | uncertain significance |
| rs2470392910 | 3:18,390,817 | C/A | — | likely pathogenic |
| rs111734237 | 3:18,390,831 | T/A | — | uncertain significance |
| rs1482550358 | 3:18,390,844 | C/T | — | uncertain significance |
| rs1694228284 | 3:18,390,874 | G/A | — | pathogenic |
| rs868379690 | 3:18,390,945 | G/C | — | uncertain significance |
| rs1462249661 | 3:18,390,958 | C/T | — | uncertain significance |
| rs2470394184 | 3:18,391,008 | G/A | — | uncertain significance |
| rs1162060084 | 3:18,391,012 | G/A | — | uncertain significance |
| rs774776247 | 3:18,391,017 | C/A | — | uncertain significance |
| rs1182895238 | 3:18,391,029 | C/T | — | uncertain significance |
| rs752755275 | 3:18,391,030 | G/A | — | pathogenic |
| rs2470394475 | 3:18,391,032 | T/G | — | uncertain significance |
| rs1694238680 | 3:18,391,041 | T/C | — | uncertain significance |
| rs780062189 | 3:18,391,051 | C/A | — | likely benign |
| rs748947180 | 3:18,391,077 | G/C | — | uncertain significance |
| rs771269224 | 3:18,391,078 | G/A | — | uncertain significance |
| rs772415685 | 3:18,391,125 | G/A | — | uncertain significance |
| rs760614100 | 3:18,391,128 | G/T | — | uncertain significance |
| rs1374719962 | 3:18,392,803 | A/T | — | uncertain significance |
| rs1455981520 | 3:18,392,804 | C/T | — | conflicting classifications of pathogenicity |
| rs116044839 | 3:18,392,819 | T/C | — | benign |
| rs943868638 | 3:18,392,906 | G/A | — | uncertain significance |
| rs2470412031 | 3:18,393,518 | G/T | — | uncertain significance |
| rs1694390694 | 3:18,393,543 | C/G | — | uncertain significance |
| rs564141224 | 3:18,393,545 | G/A | — | uncertain significance |
| rs145361574 | 3:18,393,606 | G/A | — | conflicting classifications of pathogenicity |
| rs2470412889 | 3:18,393,633 | T/C | — | uncertain significance |
| rs1694399198 | 3:18,393,675 | C/T | — | pathogenic |
| rs2125128988 | 3:18,393,687 | C/T | — | uncertain significance |
| rs6577641 | 3:18,397,849 | C/G | — | — |
| rs117184940 | 3:18,412,272 | T/C | intron variant | — |
| rs4131280 | 3:18,414,570 | G/A | intron variant | — |
| rs1695858904 | 3:18,419,663 | T/C | — | likely pathogenic |
| rs2470544840 | 3:18,419,714 | C/T | — | uncertain significance |
| rs375438006 | 3:18,419,715 | G/A | — | likely pathogenic |
| rs2125208120 | 3:18,427,918 | G/C | — | uncertain significance |
| rs2229261 | 3:18,427,924 | G/T | — | benign |
| rs2470590993 | 3:18,427,936 | C/T | — | uncertain significance |
| rs150076672 | 3:18,427,975 | C/T | — | benign |
| rs189252955 | 3:18,428,002 | C/T | — | likely benign |
| rs1213484295 | 3:18,428,030 | C/T | — | likely pathogenic |
| rs1291314034 | 3:18,428,051 | T/C | — | likely pathogenic |
| rs2470592992 | 3:18,428,063 | T/G | — | uncertain significance |
| rs2470593025 | 3:18,428,064 | T/C | — | uncertain significance |
| rs2470593293 | 3:18,428,081 | C/T | — | uncertain significance |
| rs1696356078 | 3:18,428,082 | G/A | — | pathogenic |
| rs1696356628 | 3:18,428,090 | T/C | — | pathogenic |
| rs2125208683 | 3:18,428,091 | C/G | — | pathogenic |
| rs2125115541 | 3:18,435,953 | C/A | — | uncertain significance |
| rs2470651558 | 3:18,435,955 | T/C | — | pathogenic |
| rs138600004 | 3:18,435,987 | C/T | — | likely benign |
| rs2470652189 | 3:18,436,019 | C/T | — | uncertain significance |
| rs2125115633 | 3:18,436,021 | C/T | — | uncertain significance |
| rs148337599 | 3:18,436,063 | G/A | — | likely benign |
| rs1160282900 | 3:18,436,086 | A/C | — | uncertain significance |
| rs369928384 | 3:18,436,094 | A/G | — | uncertain significance |
| rs960512584 | 3:18,436,154 | G/A | — | uncertain significance |
| rs2470655390 | 3:18,436,193 | T/C | — | uncertain significance |
| rs2470655841 | 3:18,436,216 | T/C | — | uncertain significance |
| rs767699690 | 3:18,436,238 | C/T | — | uncertain significance |
| rs1430700062 | 3:18,436,249 | T/A | — | uncertain significance |
| rs139364302 | 3:18,436,286 | T/C | — | benign |
| rs945810886 | 3:18,436,357 | T/G | — | uncertain significance |
| rs1269487377 | 3:18,436,366 | T/C | — | uncertain significance |
| rs1358200908 | 3:18,436,372 | C/A | — | uncertain significance |
| rs2470676201 | 3:18,438,743 | T/C | — | uncertain significance |
| rs2470676238 | 3:18,438,746 | C/A | — | uncertain significance |
| rs758703001 | 3:18,438,753 | A/C | — | uncertain significance |
| rs78222354 | 3:18,438,787 | A/G | — | benign |
| rs367844695 | 3:18,438,788 | T/C | — | likely benign |
| rs9310565 | 3:18,441,277 | T/A | — | — |
| rs2470791087 | 3:18,456,700 | G/A | — | likely pathogenic |
| rs2125158084 | 3:18,456,701 | G/C | — | uncertain significance |
| rs1056934746 | 3:18,457,527 | C/T | — | uncertain significance |
| rs1698096497 | 3:18,457,546 | C/G | — | uncertain significance |
| rs2470798691 | 3:18,457,584 | A/G | — | uncertain significance |
| rs2470804296 | 3:18,458,467 | C/T | — | uncertain significance |
| rs758668882 | 3:18,458,481 | C/T | — | uncertain significance |
| rs61751589 | 3:18,458,482 | C/T | — | likely benign |
| rs777511572 | 3:18,458,509 | G/C | — | uncertain significance |
| rs2470804883 | 3:18,458,522 | A/T | — | uncertain significance |
| rs1450200788 | 3:18,458,523 | T/C | — | uncertain significance |
| rs749293960 | 3:18,458,527 | G/A | — | likely benign |
| rs2470805531 | 3:18,458,573 | A/G | — | uncertain significance |
| rs144229002 | 3:18,462,340 | T/C | — | likely benign |
| rs150879927 | 3:18,462,343 | C/A | — | likely benign |
| rs61760908 | 3:18,462,349 | C/T | — | likely benign |
| rs1698356763 | 3:18,462,365 | C/T | — | conflicting classifications of pathogenicity |
| rs2470828425 | 3:18,462,485 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.