SEZ6
seizure related 6 homolog
Summary
The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs764494615 | 17:27,283,214 | A/G | — | uncertain significance |
| rs201204428 | 17:27,283,236 | G/A | — | uncertain significance |
| rs770791540 | 17:27,283,247 | C/T | — | uncertain significance |
| rs199955003 | 17:27,283,248 | G/A | — | uncertain significance |
| rs200881136 | 17:27,283,450 | C/T | — | uncertain significance |
| rs1348288249 | 17:27,283,456 | G/C | — | uncertain significance |
| rs148336598 | 17:27,283,752 | T/C | — | likely benign |
| rs776985537 | 17:27,284,094 | A/G | — | benign |
| rs61737974 | 17:27,284,194 | T/C | — | benign |
| rs376572568 | 17:27,284,209 | C/T | — | likely benign |
| rs778399609 | 17:27,284,368 | A/C | — | uncertain significance |
| rs12941884 | 17:27,284,443 | G/A | — | benign |
| rs201390120 | 17:27,284,503 | C/T | — | uncertain significance |
| rs1164253418 | 17:27,284,518 | C/T | — | uncertain significance |
| rs1379022919 | 17:27,284,984 | G/T | — | uncertain significance |
| rs374947318 | 17:27,285,002 | G/C | — | uncertain significance |
| rs778685977 | 17:27,285,135 | G/A | — | uncertain significance |
| rs758292539 | 17:27,285,150 | C/T | — | uncertain significance |
| rs375839200 | 17:27,285,151 | G/A | — | uncertain significance |
| rs749349563 | 17:27,286,058 | C/T | — | uncertain significance |
| rs114813876 | 17:27,286,153 | C/T | — | benign |
| rs557258125 | 17:27,286,355 | C/T | — | uncertain significance |
| rs201206867 | 17:27,286,422 | C/T | — | benign |
| rs61737972 | 17:27,286,462 | C/T | — | benign |
| rs201821795 | 17:27,286,753 | G/C | — | likely benign |
| rs1384250003 | 17:27,286,773 | T/C | — | uncertain significance |
| rs543072698 | 17:27,286,809 | C/T | — | uncertain significance |
| rs1470713747 | 17:27,287,615 | A/G | — | uncertain significance |
| rs777641476 | 17:27,287,947 | C/T | — | uncertain significance |
| rs2545306419 | 17:27,287,949 | A/G | — | uncertain significance |
| rs769823626 | 17:27,287,965 | C/T | — | uncertain significance |
| rs552702185 | 17:27,287,970 | C/T | — | uncertain significance |
| rs200459778 | 17:27,290,989 | C/T | — | benign |
| rs61737977 | 17:27,291,046 | C/T | — | benign |
| rs769303379 | 17:27,291,081 | C/T | — | uncertain significance |
| rs1293479097 | 17:27,296,825 | T/C | — | uncertain significance |
| rs776358336 | 17:27,296,873 | C/T | — | uncertain significance |
| rs768188621 | 17:27,296,897 | A/C | — | uncertain significance |
| rs746519494 | 17:27,296,918 | C/A | — | uncertain significance |
| rs1329101968 | 17:27,296,939 | G/A | — | uncertain significance |
| rs374820317 | 17:27,296,951 | C/T | — | likely benign |
| rs568912491 | 17:27,298,292 | A/C | — | — |
| rs749588529 | 17:27,306,770 | G/A | — | likely benign |
| rs777951826 | 17:27,308,427 | G/C | — | uncertain significance |
| rs2545346528 | 17:27,308,457 | C/T | — | uncertain significance |
| rs61738539 | 17:27,308,503 | C/T | — | benign |
| rs748533934 | 17:27,308,541 | A/G | — | uncertain significance |
| rs199557265 | 17:27,308,629 | C/T | — | uncertain significance |
| rs200758068 | 17:27,308,767 | G/A | — | uncertain significance |
| rs369460786 | 17:27,308,793 | A/C | — | uncertain significance |
| rs2545348897 | 17:27,308,887 | A/C | — | uncertain significance |
| rs1243428892 | 17:27,308,932 | C/A | — | uncertain significance |
| rs189090565 | 17:27,308,955 | C/T | — | uncertain significance |
| rs181031076 | 17:27,308,971 | G/T | — | likely benign |
| rs2545349265 | 17:27,308,995 | C/T | — | uncertain significance |
| rs201435582 | 17:27,309,034 | C/T | — | likely benign |
| rs867683263 | 17:27,309,046 | C/T | — | uncertain significance |
| rs9891553 | 17:27,313,287 | T/C | regulatory region variant | — |
| rs34039488 | 17:27,320,232 | G/A | intron variant | — |
| rs146910377 | 17:27,326,611 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.