TRPM4 Chromosome 19
Transient receptor potential cation channel subfamily M member 4
Upload your DNA to see your personal genotypes for variants in TRPM4.
What This Gene Does
The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
Transient receptor potential cation channels
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000130529
Associated Conditions (14)
Cardiovascular phenotype
Progressive familial heart block type IB
Cardiomyopathy
TRPM4-related disorder
Erythrokeratodermia variabilis et progressiva 6
Brugada syndrome
Hypertrophic cardiomyopathy
Long QT syndrome
Family history of sudden cardiac death
Conduction disorder of the heart
Ovarian serous cystadenocarcinoma
Sudden cardiac death
Ventricular tachycardia
Malignant tumor of urinary bladder
Key Variants
RS1008862252
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Progressive familial heart block type IB, Cardiovascular phenotype
Health Risk
RS1038658420
Conflicting classifications of pathogenicity
Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB
Health Risk
RS112085495
Conflicting classifications of pathogenicity
Health Risk
RS112589404
Conflicting classifications of pathogenicity
Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB
Health Risk
RS1161880335
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Progressive familial heart block type IB
Health Risk
RS116547139
Conflicting classifications of pathogenicity
Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB
Health Risk
RS1196091318
Conflicting classifications of pathogenicity
Progressive familial heart block type IB, Progressive familial heart block type IB
Health Risk
RS1202211366
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1229281209
Conflicting classifications of pathogenicity
Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB
Health Risk
RS1280227892
Conflicting classifications of pathogenicity
Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB
Health Risk
RS1320114611
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Progressive familial heart block type IB, Cardiovascular phenotype
Health Risk
RS1344126455
Conflicting classifications of pathogenicity
Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB
Health Risk
All Variants (131)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760190293 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |
| RS762104169 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Erythrokeratodermia variabilis et progressiva 6 |
| RS762827140 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |
| RS763372824 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Progressive familial heart block type IB, TRPM4-related disorder |
| RS763447325 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |
| RS765535147 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |
| RS766004189 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Erythrokeratodermia variabilis et progressiva 6, Cardiovascular phenotype |
| RS767900879 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Progressive familial heart block type IB |
| RS768896988 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |
| RS769684226 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Progressive familial heart block type IB, Malignant tumor of urinary bladder |
| RS769917929 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Progressive familial heart block type IB, TRPM4-related disorder |
| RS771728837 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Erythrokeratodermia variabilis et progressiva 6 |
| RS772690187 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |
| RS774680517 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Progressive familial heart block type IB, Cardiovascular phenotype |
| RS774806552 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Progressive familial heart block type IB |
| RS775526463 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |
| RS781191851 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |
| RS781575129 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |
| RS878855029 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Cardiomyopathy |
| RS886054576 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Progressive familial heart block type IB |
| RS886054579 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Progressive familial heart block type IB |
| RS886054580 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |
| RS919695965 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Progressive familial heart block type IB, Cardiovascular phenotype |
| RS950364050 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block type IB, Progressive familial heart block type IB |
| RS998329815 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Progressive familial heart block type IB, Cardiovascular phenotype |
| RS1425995839 | Health Risk | Likely pathogenic | — |
| RS267607142 | Health Risk | Likely pathogenic | Progressive familial heart block type IB, TRPM4-related disorder, Progressive familial heart block type IB |
| RS1278993777 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 6, Erythrokeratodermia variabilis et progressiva 6 |
| RS172151858 | Health Risk | Pathogenic | Progressive familial heart block type IB, Progressive familial heart block type IB |
| RS1369949906 | Health Risk | Pathogenic/Likely pathogenic | Erythrokeratodermia variabilis et progressiva 6, Progressive familial heart block type IB, Erythrokeratodermia variabilis et progressiva 6 |
| RS2122839457 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial heart block type IB, Cardiovascular phenotype, Progressive familial heart block type IB |