SCN5A
sodium voltage-gated channel alpha subunit 5
Summary
The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022]
Known Variants3,234 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11129795 | 3:38,589,163 | G/T | — | — |
| rs114517792 | 3:38,589,663 | C/T | — | uncertain significance |
| rs45502793 | 3:38,589,677 | G/T | — | uncertain significance |
| rs45593136 | 3:38,589,805 | C/T | — | uncertain significance |
| rs190416544 | 3:38,589,843 | G/A | — | uncertain significance |
| rs569552176 | 3:38,589,869 | G/T | — | uncertain significance |
| rs886058437 | 3:38,589,880 | G/A | — | uncertain significance |
| rs45624736 | 3:38,589,928 | C/T | — | likely benign |
| rs2060971810 | 3:38,589,969 | A/C | — | uncertain significance |
| rs886058438 | 3:38,589,976 | T/A | — | uncertain significance |
| rs45610536 | 3:38,589,992 | G/C | — | conflicting classifications of pathogenicity |
| rs1477171569 | 3:38,590,010 | C/T | — | uncertain significance |
| rs886058439 | 3:38,590,068 | G/C | — | uncertain significance |
| rs45474195 | 3:38,590,069 | C/T | — | uncertain significance |
| rs569249327 | 3:38,590,081 | C/G | — | uncertain significance |
| rs886058440 | 3:38,590,107 | G/A | — | uncertain significance |
| rs886058441 | 3:38,590,111 | C/A | — | uncertain significance |
| rs886058442 | 3:38,590,121 | C/A | — | uncertain significance |
| rs886058443 | 3:38,590,139 | G/A | — | uncertain significance |
| rs886058444 | 3:38,590,210 | C/A | — | uncertain significance |
| rs45503498 | 3:38,590,244 | C/G | — | uncertain significance |
| rs1040662890 | 3:38,590,257 | G/A | — | uncertain significance |
| rs41315485 | 3:38,590,275 | A/G | — | likely benign |
| rs41313015 | 3:38,590,316 | A/C | — | conflicting classifications of pathogenicity |
| rs886058445 | 3:38,590,369 | G/T | — | uncertain significance |
| rs74954894 | 3:38,590,398 | C/G | — | conflicting classifications of pathogenicity |
| rs41310753 | 3:38,590,422 | T/C | — | conflicting classifications of pathogenicity |
| rs41310755 | 3:38,590,528 | C/T | — | likely benign |
| rs1449334566 | 3:38,590,611 | G/T | — | uncertain significance |
| rs947521286 | 3:38,590,646 | C/T | — | uncertain significance |
| rs41313017 | 3:38,590,647 | G/A | — | likely benign |
| rs41315489 | 3:38,590,648 | C/A | — | conflicting classifications of pathogenicity |
| rs557896083 | 3:38,590,661 | C/T | — | uncertain significance |
| rs886058446 | 3:38,590,725 | C/T | — | uncertain significance |
| rs776171341 | 3:38,590,738 | G/C | — | uncertain significance |
| rs976491159 | 3:38,590,752 | C/T | — | uncertain significance |
| rs920940184 | 3:38,590,754 | C/A | — | uncertain significance |
| rs886058447 | 3:38,590,764 | C/T | — | uncertain significance |
| rs886058448 | 3:38,590,822 | A/G | — | uncertain significance |
| rs886058449 | 3:38,590,832 | G/T | — | uncertain significance |
| rs4073796 | 3:38,590,849 | G/A | — | likely benign |
| rs4073797 | 3:38,590,850 | A/T | — | likely benign |
| rs886058450 | 3:38,590,867 | G/T | — | uncertain significance |
| rs561475141 | 3:38,590,892 | C/G | — | conflicting classifications of pathogenicity |
| rs546849670 | 3:38,590,923 | G/T | — | conflicting classifications of pathogenicity |
| rs41310757 | 3:38,591,059 | A/G | — | likely benign |
| rs763830252 | 3:38,591,065 | C/T | — | uncertain significance |
| rs886058451 | 3:38,591,087 | G/T | — | uncertain significance |
| rs886058452 | 3:38,591,107 | G/T | — | uncertain significance |
| rs550747620 | 3:38,591,124 | G/A | — | uncertain significance |
| rs45458203 | 3:38,591,135 | C/T | — | conflicting classifications of pathogenicity |
| rs540984871 | 3:38,591,149 | G/T | — | uncertain significance |
| rs1264714663 | 3:38,591,150 | G/A | — | uncertain significance |
| rs45446194 | 3:38,591,153 | G/A | — | uncertain significance |
| rs886058453 | 3:38,591,178 | G/T | — | uncertain significance |
| rs41315491 | 3:38,591,198 | C/T | — | likely benign |
| rs1162696914 | 3:38,591,225 | G/A | — | uncertain significance |
| rs886058454 | 3:38,591,296 | C/A | — | uncertain significance |
| rs886058455 | 3:38,591,326 | G/A | — | uncertain significance |
| rs889570615 | 3:38,591,337 | A/G | — | uncertain significance |
| rs45459402 | 3:38,591,430 | A/G | — | uncertain significance |
| rs551399685 | 3:38,591,481 | A/G | — | uncertain significance |
| rs886058456 | 3:38,591,516 | C/T | — | uncertain significance |
| rs886058457 | 3:38,591,522 | C/T | — | uncertain significance |
| rs147795595 | 3:38,591,608 | A/G | — | uncertain significance |
| rs772585696 | 3:38,591,652 | C/T | — | uncertain significance |
| rs41313019 | 3:38,591,653 | G/A | — | likely benign |
| rs2060999631 | 3:38,591,681 | C/T | — | uncertain significance |
| rs7429945 | 3:38,591,689 | T/C | — | likely benign |
| rs886058458 | 3:38,591,739 | G/T | — | uncertain significance |
| rs776980213 | 3:38,591,806 | C/A | — | uncertain significance |
| rs762103625 | 3:38,591,807 | G/A | — | conflicting classifications of pathogenicity |
| rs375282305 | 3:38,591,811 | C/T | — | likely benign |
| rs529885772 | 3:38,591,813 | C/T | — | conflicting classifications of pathogenicity |
| rs1060499941 | 3:38,591,815 | C/T | synonymous variant | pathogenic |
| rs878857302 | 3:38,591,816 | A/T | — | uncertain significance |
| rs762981322 | 3:38,591,817 | C/T | — | conflicting classifications of pathogenicity |
| rs766459103 | 3:38,591,818 | G/A | — | likely benign |
| rs2471522575 | 3:38,591,821 | G/A | — | likely benign |
| rs1452973930 | 3:38,591,822 | G/C | — | uncertain significance |
| rs2061002059 | 3:38,591,825 | T/C | — | uncertain significance |
| rs774244998 | 3:38,591,828 | C/T | — | uncertain significance |
| rs199473640 | 3:38,591,829 | G/A | missense variant | uncertain significance |
| rs886058459 | 3:38,591,830 | G/T | — | uncertain significance |
| rs2061002374 | 3:38,591,831 | T/C | — | uncertain significance |
| rs764556359 | 3:38,591,833 | C/A | — | uncertain significance |
| rs753744525 | 3:38,591,835 | T/C | — | uncertain significance |
| rs757114635 | 3:38,591,836 | G/C | — | uncertain significance |
| rs2471522747 | 3:38,591,838 | C/A | — | uncertain significance |
| rs765024596 | 3:38,591,839 | C/T | — | likely benign |
| rs750070697 | 3:38,591,840 | G/A | — | uncertain significance |
| rs199473338 | 3:38,591,846 | G/C | missense variant | uncertain significance |
| rs45489199 | 3:38,591,847 | G/C | — | conflicting classifications of pathogenicity |
| rs2125824075 | 3:38,591,848 | G/A | — | likely benign |
| rs779649600 | 3:38,591,849 | G/A | — | conflicting classifications of pathogenicity |
| rs199473337 | 3:38,591,850 | G/A | missense variant | uncertain significance |
| rs755485335 | 3:38,591,851 | G/A | — | likely benign |
| rs794728842 | 3:38,591,852 | A/G | — | conflicting classifications of pathogenicity |
| rs41311117 | 3:38,591,853 | A/C | missense variant | uncertain significance |
| rs376697724 | 3:38,591,856 | C/T | — | conflicting classifications of pathogenicity |
Showing 100 of 3,234 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.