SMG9
SMG9 nonsense mediated mRNA decay factor
Summary
This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1600187467 | 19:44,235,760 | G/A | — | likely benign |
| rs1418644001 | 19:44,235,803 | C/G | — | pathogenic |
| rs910391772 | 19:44,235,809 | C/T | — | uncertain significance |
| rs1174892147 | 19:44,237,030 | C/T | — | likely benign |
| rs377252810 | 19:44,237,068 | G/A | — | pathogenic |
| rs750803882 | 19:44,237,074 | G/A | — | uncertain significance |
| rs2513896103 | 19:44,237,115 | T/C | — | uncertain significance |
| rs146844109 | 19:44,237,142 | C/T | — | uncertain significance |
| rs144177272 | 19:44,237,525 | C/T | — | likely benign |
| rs138335943 | 19:44,237,540 | C/T | — | likely benign |
| rs752814999 | 19:44,237,557 | C/G | — | uncertain significance |
| rs777838022 | 19:44,237,566 | G/A | — | uncertain significance |
| rs201687817 | 19:44,237,571 | G/A | — | uncertain significance |
| rs140674886 | 19:44,237,580 | T/C | — | uncertain significance |
| rs2513899357 | 19:44,237,779 | C/T | — | likely benign |
| rs1968559161 | 19:44,237,811 | G/A | — | pathogenic |
| rs73935066 | 19:44,237,834 | C/T | — | likely benign |
| rs368089847 | 19:44,237,844 | G/A | — | uncertain significance |
| rs201870805 | 19:44,237,864 | C/T | — | uncertain significance |
| rs902928896 | 19:44,238,532 | G/T | — | likely benign |
| rs150580575 | 19:44,238,572 | G/A | — | likely benign |
| rs139642454 | 19:44,238,576 | C/A | — | uncertain significance |
| rs996208121 | 19:44,238,581 | T/G | — | likely benign |
| rs28483837 | 19:44,238,596 | G/A | — | benign |
| rs372754806 | 19:44,241,797 | T/C | — | association |
| rs139136865 | 19:44,241,805 | C/T | — | likely benign |
| rs1390609685 | 19:44,242,291 | T/C | — | uncertain significance |
| rs1968802190 | 19:44,244,285 | C/A | — | pathogenic |
| rs367557838 | 19:44,244,286 | T/C | — | likely benign |
| rs371660173 | 19:44,244,320 | T/C | — | uncertain significance |
| rs764359945 | 19:44,244,321 | T/G | — | uncertain significance |
| rs346532 | 19:44,248,878 | A/G | — | benign |
| rs869312742 | 19:44,248,920 | T/C | — | pathogenic |
| rs550974987 | 19:44,248,963 | A/G | — | uncertain significance |
| rs751294942 | 19:44,248,967 | C/T | — | uncertain significance |
| rs778572007 | 19:44,249,014 | A/T | — | uncertain significance |
| rs184145466 | 19:44,251,584 | C/T | — | likely benign |
| rs1599656398 | 19:44,251,587 | T/G | — | likely benign |
| rs346537 | 19:44,251,589 | G/A | — | benign |
| rs148972113 | 19:44,251,597 | G/A | — | likely benign |
| rs749498958 | 19:44,251,631 | A/G | — | pathogenic |
| rs747752305 | 19:44,251,652 | A/G | — | uncertain significance |
| rs775419922 | 19:44,251,655 | C/G | — | uncertain significance |
| rs763986657 | 19:44,251,664 | G/A | — | uncertain significance |
| rs143775531 | 19:44,251,785 | G/A | — | uncertain significance |
| rs1355998209 | 19:44,251,817 | C/A | — | uncertain significance |
| rs1599656847 | 19:44,251,840 | A/G | — | likely benign |
| rs1599656939 | 19:44,251,885 | A/T | — | likely benign |
| rs773896498 | 19:44,251,893 | C/T | — | uncertain significance |
| rs1599656979 | 19:44,251,894 | A/T | — | likely benign |
| rs199758349 | 19:44,251,898 | G/A | — | likely benign |
| rs779105963 | 19:44,251,909 | G/A | — | likely benign |
| rs2513935549 | 19:44,251,910 | G/T | — | uncertain significance |
| rs758635388 | 19:44,251,913 | C/A | — | uncertain significance |
| rs200569408 | 19:44,251,921 | G/C | — | benign |
| rs373495772 | 19:44,251,939 | G/A | — | likely benign |
| rs1969068695 | 19:44,251,967 | G/A | — | uncertain significance |
| rs1309043567 | 19:44,252,024 | G/T | — | uncertain significance |
| rs1969071451 | 19:44,252,027 | G/A | — | uncertain significance |
| rs900956500 | 19:44,252,028 | T/C | — | likely benign |
| rs997937174 | 19:44,252,052 | A/G | — | uncertain significance |
| rs375169191 | 19:44,252,054 | G/A | — | likely benign |
| rs200972716 | 19:44,252,159 | T/C | — | uncertain significance |
| rs763335310 | 19:44,252,162 | G/A | — | uncertain significance |
| rs376394490 | 19:44,252,196 | G/A | — | benign |
| rs201312826 | 19:44,254,741 | C/T | — | likely benign |
| rs1053832229 | 19:44,254,755 | T/C | — | uncertain significance |
| rs202142067 | 19:44,254,761 | A/G | — | uncertain significance |
| rs1568382956 | 19:44,254,784 | C/T | — | uncertain significance |
| rs199860409 | 19:44,254,785 | G/A | — | uncertain significance |
| rs1219967228 | 19:44,254,788 | C/T | — | uncertain significance |
| rs374528302 | 19:44,254,845 | G/A | — | uncertain significance |
| rs767958103 | 19:44,254,872 | G/A | — | likely pathogenic |
| rs146120517 | 19:44,255,735 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.