SCN2A
sodium voltage-gated channel alpha subunit 2
Summary
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Known Variants2,089 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2119067 | 2:166,127,283 | C/T | intron variant | — |
| rs10184275 | 2:166,127,928 | G/C | — | — |
| rs16850317 | 2:166,144,414 | T/G | downstream gene variant | — |
| rs61051952 | 2:166,148,324 | A/G | intron variant | — |
| rs12619604 | 2:166,148,681 | A/G | intron variant | — |
| rs12614399 | 2:166,150,300 | G/C | — | benign |
| rs749326085 | 2:166,150,358 | G/A | — | uncertain significance |
| rs886054989 | 2:166,150,369 | C/T | — | uncertain significance |
| rs1208312868 | 2:166,150,521 | A/T | — | uncertain significance |
| rs867379149 | 2:166,150,525 | A/C | — | uncertain significance |
| rs886054990 | 2:166,150,549 | G/A | — | uncertain significance |
| rs76193610 | 2:166,150,550 | A/T | — | uncertain significance |
| rs886054998 | 2:166,150,554 | T/C | — | uncertain significance |
| rs796053109 | 2:166,150,625 | G/T | — | likely benign |
| rs962697383 | 2:166,150,626 | G/T | — | likely benign |
| rs886054999 | 2:166,150,631 | A/G | — | uncertain significance |
| rs1266226093 | 2:166,150,646 | G/T | — | uncertain significance |
| rs353126 | 2:166,152,111 | T/C | — | benign |
| rs79293169 | 2:166,152,147 | C/T | — | likely benign |
| rs2075704 | 2:166,152,185 | A/G | — | benign |
| rs13407286 | 2:166,152,222 | G/A | — | likely benign |
| rs755901960 | 2:166,152,292 | A/C | — | uncertain significance |
| rs777439927 | 2:166,152,293 | T/C | — | likely benign |
| rs1553564139 | 2:166,152,334 | A/T | — | likely pathogenic |
| rs1553564141 | 2:166,152,340 | C/T | — | pathogenic |
| rs1181276453 | 2:166,152,341 | A/G | — | uncertain significance |
| rs1435672829 | 2:166,152,342 | G/C | — | uncertain significance |
| rs1553564144 | 2:166,152,344 | C/G | — | pathogenic |
| rs2106148913 | 2:166,152,345 | A/G | — | likely benign |
| rs2467837698 | 2:166,152,346 | G/A | — | uncertain significance |
| rs2467837709 | 2:166,152,349 | C/A | — | uncertain significance |
| rs747139785 | 2:166,152,356 | C/T | — | uncertain significance |
| rs149534277 | 2:166,152,357 | G/A | — | conflicting classifications of pathogenicity |
| rs1191664110 | 2:166,152,360 | A/T | — | likely benign |
| rs2106148959 | 2:166,152,364 | C/G | — | uncertain significance |
| rs1696475965 | 2:166,152,367 | G/A | — | uncertain significance |
| rs1334730213 | 2:166,152,369 | C/G | — | likely benign |
| rs2106148981 | 2:166,152,370 | A/G | — | uncertain significance |
| rs551347418 | 2:166,152,376 | C/T | — | conflicting classifications of pathogenicity |
| rs773482307 | 2:166,152,377 | G/A | — | likely benign |
| rs2467837960 | 2:166,152,384 | T/C | — | uncertain significance |
| rs17183814 | 2:166,152,389 | G/A | missense variant | benign |
| rs527452801 | 2:166,152,403 | G/A | — | likely benign |
| rs767145207 | 2:166,152,406 | A/G | — | uncertain significance |
| rs1366486532 | 2:166,152,407 | T/G | — | uncertain significance |
| rs1439524882 | 2:166,152,409 | G/C | — | uncertain significance |
| rs1162322343 | 2:166,152,414 | A/T | — | uncertain significance |
| rs200884216 | 2:166,152,415 | C/T | — | likely benign |
| rs1007052146 | 2:166,152,416 | G/A | — | conflicting classifications of pathogenicity |
| rs1337092354 | 2:166,152,421 | G/A | — | uncertain significance |
| rs2467838141 | 2:166,152,424 | G/A | — | uncertain significance |
| rs144814658 | 2:166,152,433 | G/A | — | conflicting classifications of pathogenicity |
| rs1553564177 | 2:166,152,434 | C/T | — | uncertain significance |
| rs796053167 | 2:166,152,439 | A/G | — | uncertain significance |
| rs2106149149 | 2:166,152,441 | A/G | — | likely benign |
| rs763906285 | 2:166,152,442 | C/A | — | uncertain significance |
| rs2467838210 | 2:166,152,443 | C/G | — | uncertain significance |
| rs2467838227 | 2:166,152,446 | A/C | — | uncertain significance |
| rs757194863 | 2:166,152,448 | C/A | — | uncertain significance |
| rs1553564192 | 2:166,152,451 | G/A | — | uncertain significance |
| rs747086776 | 2:166,152,454 | C/T | — | conflicting classifications of pathogenicity |
| rs754993031 | 2:166,152,455 | G/A | — | conflicting classifications of pathogenicity |
| rs781272663 | 2:166,152,465 | G/A | — | likely benign |
| rs748331725 | 2:166,152,467 | A/T | — | uncertain significance |
| rs773605666 | 2:166,152,478 | G/A | — | uncertain significance |
| rs1182973696 | 2:166,152,480 | C/T | — | likely benign |
| rs2467838602 | 2:166,152,481 | C/T | — | uncertain significance |
| rs2106149256 | 2:166,152,482 | C/A | — | uncertain significance |
| rs2467838632 | 2:166,152,491 | A/G | — | uncertain significance |
| rs2467838639 | 2:166,152,492 | C/T | — | likely benign |
| rs557687080 | 2:166,152,493 | A/T | — | uncertain significance |
| rs1475242235 | 2:166,152,494 | G/A | — | likely benign |
| rs2467838667 | 2:166,152,496 | G/C | — | uncertain significance |
| rs1574525321 | 2:166,152,497 | A/C | — | likely pathogenic |
| rs1553564213 | 2:166,152,500 | T/A | — | pathogenic |
| rs796053110 | 2:166,152,510 | A/C | — | likely benign |
| rs1696487020 | 2:166,152,512 | A/G | — | uncertain significance |
| rs1064797259 | 2:166,152,520 | C/T | — | uncertain significance |
| rs2467838772 | 2:166,152,521 | C/T | — | uncertain significance |
| rs2106149322 | 2:166,152,522 | A/G | — | likely benign |
| rs2467838801 | 2:166,152,531 | T/C | — | likely benign |
| rs1559343909 | 2:166,152,541 | C/G | — | uncertain significance |
| rs2467838910 | 2:166,152,542 | C/T | — | uncertain significance |
| rs1574525422 | 2:166,152,546 | A/T | — | likely benign |
| rs2106149377 | 2:166,152,551 | T/C | — | uncertain significance |
| rs1553564231 | 2:166,152,553 | G/A | — | uncertain significance |
| rs2467839014 | 2:166,152,564 | C/T | — | likely benign |
| rs1402926276 | 2:166,152,568 | G/C | — | uncertain significance |
| rs2467839044 | 2:166,152,572 | A/T | — | uncertain significance |
| rs1327484226 | 2:166,152,573 | T/C | — | likely benign |
| rs2467839067 | 2:166,152,578 | A/G | — | uncertain significance |
| rs1696490964 | 2:166,152,580 | C/A | — | uncertain significance |
| rs143065769 | 2:166,152,585 | C/A | — | pathogenic |
| rs1282884197 | 2:166,152,587 | A/T | — | uncertain significance |
| rs199657941 | 2:166,152,588 | T/C | — | likely benign |
| rs2106149436 | 2:166,152,593 | A/G | — | uncertain significance |
| rs1696491855 | 2:166,152,594 | T/A | — | uncertain significance |
| rs1240522073 | 2:166,152,617 | G/A | — | likely benign |
| rs111535588 | 2:166,152,651 | G/A | — | benign |
| rs191176517 | 2:166,152,892 | C/T | — | likely benign |
Showing 100 of 2,089 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.