SCNN1A Chromosome 12
Sodium channel epithelial 1 subunit alpha
Upload your DNA to see your personal genotypes for variants in SCNN1A.
What This Gene Does
Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]
Gene Info
Gene Group
Sodium channels epithelial
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000111319
Associated Conditions (17)
Bronchiectasis with or without elevated sweat chloride 2
Pseudohypoaldosteronism
type IB1
autosomal recessive
Liddle syndrome 3
Inborn genetic diseases
Malignant tumor of urinary bladder
Gastric cancer
Thyroid cancer
nonmedullary
1
Cervical cancer
SCNN1A-related disorder
Idiopathic bronchiectasis
Incidental Discovery
Neurodevelopmental delay
Renal tubulopathies
Key Variants
RS1366336758
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1
Health Risk
RS137852634
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS138995556
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS139335335
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1
Health Risk
RS140681881
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS142409152
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS144275086
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS146177203
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3, Pseudohypoaldosteronism
Health Risk
RS148749888
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS148959452
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS149484264
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1
Health Risk
RS199526819
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1366336758 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS137852634 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS138995556 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS139335335 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS140681881 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS142409152 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS144275086 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS146177203 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3, Pseudohypoaldosteronism |
| RS148749888 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS148959452 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS149484264 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS199526819 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS200557019 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Pseudohypoaldosteronism, type IB1 |
| RS200770604 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS201235216 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS201873521 | Health Risk | Conflicting classifications of pathogenicity | Liddle syndrome 3, Pseudohypoaldosteronism, type IB1 |
| RS367681929 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Pseudohypoaldosteronism, type IB1 |
| RS369382063 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS370406973 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS375712066 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS376456435 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS3764873 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS539360032 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS55981728 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS569195112 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS61758858 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS62619209 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS62620999 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS72657550 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS72657556 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751903373 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS755287192 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS759933475 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type IB1 |
| RS761663786 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771949339 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, SCNN1A-related disorder, Liddle syndrome 3 |
| RS772498945 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 2, Bronchiectasis with or without elevated sweat chloride 2 |
| RS775290860 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS1165464622 | Health Risk | Likely pathogenic | — |
| RS1369791519 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS137852635 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS1555112332 | Health Risk | Likely pathogenic | Idiopathic bronchiectasis, Idiopathic bronchiectasis |
| RS1565488675 | Health Risk | Likely pathogenic | Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3, Pseudohypoaldosteronism |
| RS2497879030 | Health Risk | Likely pathogenic | SCNN1A-related disorder, SCNN1A-related disorder |
| RS2497885818 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS1565478701 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS1592074026 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS1948331954 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS1948588956 | Health Risk | Pathogenic | — |
| RS2136865918 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS2497930442 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive |