PharmGKB contains no dosing guidelines for this gene. To report known dosing guidelines, or if you are interested in developing guidelines, click here.
PharmGKB contains no drug labels with pharmacogenomic information for this gene. To report a drug label with PGx, click here.
PharmGKB contains no clinical annotations for this gene. To report clinical variants, click here.
PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.
The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.
The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.
Links in the "Drugs" column lead to PharmGKB Drug Pages.
|
Variant?
(build 132) |
Alternate Names ? | Drugs ? | Alleles ? | Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs1805124 | SCN5A:H558R, c.1673A>G, g.38585420T>C, g.38620424T>C, g.50744A>G, p.His558Arg | T > C | Missense | His558Arg | ||
| rs1805125 | G > A | Missense | Pro1089Leu | |||
| rs41313691 | C > A | Missense | Ser524Tyr | |||
| rs41315493 | G > T | Missense | Val1951Leu | |||
| rs6791924 | SCN5A:R34C, c.100C>T, g.21465C>T, g.38614699G>A, p.Arg34Cys | C > T | Missense | Arg34Cys | ||
| rs7626962 | SCN5A:S1103Y, c.3228+1515C>A, c.3305C>A, c.3308C>A, g.38560907G>A, g.38560907G>C, g.38560907G>T, g.38595911G>T, g.75257C>A, p.Ser1102Tyr, p.Ser1103Tyr | C > A | Missense | Ser1102Tyr |
Overview
| Alternate Names: | OTTHUMP00000209279; OTTHUMP00000209280; OTTHUMP00000209281; OTTHUMP00000209282; OTTHUMP00000209283; OTTHUMP00000209284; Sodium channel, voltage-gated, type V, alpha polypeptide; cardiac sodium channel alpha subunit; cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit; cardiomyopathy, dilated 1E (autosomal dominant); sodium channel protein cardiac muscle subunit alpha; sodium channel protein type 5 subunit alpha; sodium channel protein type V alpha subunit; sodium channel protein type V subunit alpha; sodium channel, voltage-gated, type V, alpha (long QT syndrome 3); sodium channel, voltage-gated, type V, alpha polypeptide (long (electrocardiographic) QT syndrome 3); voltage-gated sodium channel subunit alpha Nav1.5; voltage-gated sodium channel type V alpha |
|---|---|
| Alternate Symbols: | CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1 |
| Haplotypes: | SCN5A Haplotype A; SCN5A Haplotype B; SCN5A Haplotype C |
| PharmGKB Accession Id: | PA304 |
Details
| Cytogenetic Location: | chr3 : p22.2 - p22.2 |
|---|---|
| GP mRNA Boundary†: | chr3 : 38589553 - 38691163 |
| GP Gene Boundary†: | chr3 : 38586553 - 38701163 |
| Strand: | minus |
| Product Name: | cardiac sodium channel alpha subunit, cardiomyopathy, dilated 1E (autosomal dominant), sodium channel, voltage-gated, type V, alpha polypeptide (long (electrocardiographic) QT syndrome 3), voltage-gated sodium channel type V alpha, voltage-gated sodium channel type V alpha isoform a, voltage-gated sodium channel type V alpha isoform b |
All alleles are displayed on the positive chromosomal strand.
| Haplotype | rs9825294 |
|---|---|
| SCN5A Haplotype A | A |
| SCN5A Haplotype B | G |
| SCN5A Haplotype C | A |
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
-
Antiarrhythmic Pathway, Pharmacodynamics
Pharmacodynamic pathway of antiarrhythmic drugs in a stylized cardiac myocyte.
External Pathways
Links to non-PharmGKB pathways.
PharmGKB contains no links to external pathways for this gene. To report a pathway, click here.
Datasets
- Characteristics of Variant Sodium Channels
- Drug-Induced Long QT Intervals
- A chemogenomic approach to drug discovery: focus on cardiovascular diseases
- A Genotype Dependent Intermediate ECG Phenotype in Patients with Persistent Lone Atrial Fibrillation
- Cardiac Sodium Channel (SCN5A) Variants Associated with Atrial Fibrillation
- Genetic Associations in Drug-induced QT Prolongation and Torsades
Downloads
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LinkOuts
- Entrez Gene:
- 6331
- OMIM:
- 113900
- 272120
- 600163
- 601144
- 601154
- 603829
- 603830
- 608567
- UCSC Genome Browser:
- NM_000335
- RefSeq RNA:
- NM_000335
- NM_001099404
- NM_001099405
- NM_001160160
- NM_001160161
- NM_198056
- RefSeq Protein:
- NP_000326
- NP_001092874
- NP_001092875
- NP_001153632
- NP_001153633
- NP_932173
- RefSeq DNA:
- AC_000135
- NC_000003
- NG_008934
- NT_022517
- NW_001838877
- NW_922005
- NW_925076
- UniProtKB:
- SCN5A_HUMAN (Q14524)
- Q59H93_HUMAN (Q59H93)
- Q86V90_HUMAN (Q86V90)
- Ensembl:
- ENSG00000183873
- GenAtlas:
- SCN5A
- GeneCard:
- GC03M038589 (6331)
- SOURCE:
- SCN5A
- MutDB:
- SCN5A
- PromoLign:
- ortho_1799
- ALFRED:
- LO079969O
- HuGE:
- SCN5A
- Comparative Toxicogenomics Database:
- 6331
- ModBase:
- Q14524
- IUPHAR Receptor:
- Nav1.5 (582)
- HGNC:
- 10593
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.