SCN3B
sodium voltage-gated channel beta subunit 3
Summary
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Known Variants200 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs765294617 | 11:123,499,919 | A/G | — | uncertain significance |
| rs867302682 | 11:123,502,141 | C/T | — | uncertain significance |
| rs72552198 | 11:123,503,998 | C/T | — | benign |
| rs80017720 | 11:123,504,060 | G/T | — | uncertain significance |
| rs111690826 | 11:123,504,354 | G/A | — | benign |
| rs139525967 | 11:123,504,481 | C/T | — | benign |
| rs1057524334 | 11:123,504,499 | A/T | — | likely benign |
| rs1148111 | 11:123,504,673 | C/G | — | benign |
| rs199552601 | 11:123,504,813 | T/G | — | benign |
| rs750969469 | 11:123,504,867 | A/C | — | uncertain significance |
| rs1213476516 | 11:123,504,868 | C/T | — | uncertain significance |
| rs758915355 | 11:123,504,869 | C/T | — | likely benign |
| rs186341159 | 11:123,504,870 | G/A | — | conflicting classifications of pathogenicity |
| rs2497554990 | 11:123,504,871 | C/T | — | uncertain significance |
| rs1461442269 | 11:123,504,875 | G/A | — | likely benign |
| rs1239900831 | 11:123,504,878 | C/T | — | likely benign |
| rs755266153 | 11:123,504,881 | C/G | — | uncertain significance |
| rs781244975 | 11:123,504,885 | T/C | — | uncertain significance |
| rs2497555104 | 11:123,504,891 | G/A | — | uncertain significance |
| rs1955701140 | 11:123,504,898 | T/C | — | uncertain significance |
| rs2497555187 | 11:123,504,902 | A/G | — | likely benign |
| rs777776827 | 11:123,504,912 | G/C | — | uncertain significance |
| rs1407346895 | 11:123,504,915 | C/G | — | uncertain significance |
| rs2137231103 | 11:123,504,916 | T/C | — | uncertain significance |
| rs745830643 | 11:123,504,918 | T/C | — | likely benign |
| rs2137231130 | 11:123,504,930 | G/A | — | likely benign |
| rs1148110 | 11:123,504,959 | C/G | — | benign |
| rs72552145 | 11:123,505,044 | G/A | — | likely benign |
| rs72552146 | 11:123,505,070 | T/C | — | likely benign |
| rs1148109 | 11:123,505,099 | C/T | — | benign |
| rs115365692 | 11:123,505,104 | A/T | — | likely benign |
| rs4554899 | 11:123,508,688 | G/T | — | benign |
| rs2276022 | 11:123,508,764 | A/G | — | likely benign |
| rs2276023 | 11:123,508,803 | G/A | — | likely benign |
| rs7112258 | 11:123,508,842 | A/G | — | benign |
| rs1057520882 | 11:123,508,882 | C/T | — | likely benign |
| rs2137235766 | 11:123,508,885 | T/G | — | likely benign |
| rs1314053457 | 11:123,508,893 | C/T | — | uncertain significance |
| rs767843514 | 11:123,508,894 | G/A | — | uncertain significance |
| rs375755770 | 11:123,508,895 | C/T | — | conflicting classifications of pathogenicity |
| rs34964168 | 11:123,508,896 | G/A | — | likely benign |
| rs1349584986 | 11:123,508,904 | G/C | — | uncertain significance |
| rs575419664 | 11:123,508,908 | T/C | — | likely benign |
| rs1955750790 | 11:123,508,910 | C/T | — | uncertain significance |
| rs1555115003 | 11:123,508,913 | C/T | — | uncertain significance |
| rs769173831 | 11:123,508,916 | C/T | — | uncertain significance |
| rs746888620 | 11:123,508,917 | G/A | — | likely benign |
| rs780983107 | 11:123,508,937 | A/T | — | uncertain significance |
| rs747776064 | 11:123,508,941 | A/G | — | likely benign |
| rs1232088805 | 11:123,508,943 | A/G | — | uncertain significance |
| rs772885993 | 11:123,508,953 | G/A | — | likely benign |
| rs896486186 | 11:123,508,959 | C/A | — | likely benign |
| rs760034688 | 11:123,508,961 | G/C | — | uncertain significance |
| rs1001532028 | 11:123,508,989 | G/A | — | likely benign |
| rs753068381 | 11:123,508,992 | C/T | — | uncertain significance |
| rs571255893 | 11:123,508,994 | T/C | — | uncertain significance |
| rs587777557 | 11:123,508,996 | A/G | missense variant | pathogenic |
| rs2497562367 | 11:123,509,024 | C/T | — | uncertain significance |
| rs2137236047 | 11:123,509,032 | G/C | — | uncertain significance |
| rs1591343995 | 11:123,509,036 | A/C | — | likely benign |
| rs527845801 | 11:123,509,039 | G/C | — | likely benign |
| rs56655956 | 11:123,509,236 | G/A | — | benign |
| rs76323658 | 11:123,512,957 | A/G | — | benign |
| rs1474765620 | 11:123,513,134 | A/C | — | likely benign |
| rs759996960 | 11:123,513,146 | A/G | — | likely benign |
| rs996152549 | 11:123,513,151 | C/T | — | conflicting classifications of pathogenicity |
| rs1301432167 | 11:123,513,158 | C/A | — | uncertain significance |
| rs1332285247 | 11:123,513,160 | C/T | — | uncertain significance |
| rs1275085 | 11:123,513,161 | G/T | — | benign |
| rs548044819 | 11:123,513,163 | T/C | — | uncertain significance |
| rs879253730 | 11:123,513,176 | G/C | missense variant | pathogenic |
| rs954926590 | 11:123,513,179 | C/A | — | likely benign |
| rs770801747 | 11:123,513,183 | C/T | — | conflicting classifications of pathogenicity |
| rs368054375 | 11:123,513,184 | G/A | — | conflicting classifications of pathogenicity |
| rs754065169 | 11:123,513,185 | C/T | — | likely benign |
| rs761964055 | 11:123,513,186 | G/A | — | uncertain significance |
| rs765254611 | 11:123,513,188 | C/T | — | likely benign |
| rs750476444 | 11:123,513,189 | G/A | — | uncertain significance |
| rs1445384345 | 11:123,513,192 | T/C | — | uncertain significance |
| rs754912359 | 11:123,513,195 | A/G | — | uncertain significance |
| rs1955803960 | 11:123,513,200 | G/T | — | likely benign |
| rs752593287 | 11:123,513,203 | C/A | — | likely benign |
| rs755967151 | 11:123,513,204 | C/T | — | uncertain significance |
| rs371558196 | 11:123,513,205 | G/A | — | uncertain significance |
| rs1457138925 | 11:123,513,207 | T/C | — | uncertain significance |
| rs2497572461 | 11:123,513,208 | G/T | — | uncertain significance |
| rs148484744 | 11:123,513,209 | C/T | — | likely benign |
| rs587777556 | 11:123,513,210 | G/T | missense variant | uncertain significance |
| rs745365889 | 11:123,513,215 | A/C | — | uncertain significance |
| rs1955804399 | 11:123,513,219 | T/C | — | uncertain significance |
| rs201894537 | 11:123,513,228 | C/T | — | uncertain significance |
| rs747452360 | 11:123,513,229 | G/A | — | uncertain significance |
| rs886038881 | 11:123,513,236 | A/G | — | likely benign |
| rs1754321671 | 11:123,513,245 | G/C | — | uncertain significance |
| rs1955804890 | 11:123,513,258 | T/A | — | uncertain significance |
| rs142613556 | 11:123,513,260 | G/A | — | likely benign |
| rs2497572659 | 11:123,513,265 | G/C | — | uncertain significance |
| rs1212729401 | 11:123,513,266 | A/G | — | likely benign |
| rs2497572673 | 11:123,513,269 | G/A | — | likely benign |
| rs147205617 | 11:123,513,271 | C/T | missense variant | pathogenic |
Showing 100 of 200 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.