SCNN1G Chromosome 16
Sodium channel epithelial 1 subunit gamma
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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 gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]
Gene Info
Gene Group
Sodium channels epithelial
Locus Type
gene with protein product
Location
16p12.2
Ensembl
ENSG00000166828
Associated Conditions (9)
Liddle syndrome 2
Pseudohypoaldosteronism
type IB1
autosomal recessive
Inborn genetic diseases
Monosomy 7 myelodysplasia and leukemia syndrome 1
Bronchiectasis with or without elevated sweat chloride 3
type IB3
SCNN1G-related disorder
Key Variants
RS139012605
Conflicting classifications of pathogenicity
Liddle syndrome 2, Pseudohypoaldosteronism, type IB1
Health Risk
RS144653364
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2, Pseudohypoaldosteronism
Health Risk
RS145602271
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS146413363
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS146420892
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS148776783
Conflicting classifications of pathogenicity
Health Risk
RS148985177
Conflicting classifications of pathogenicity
Liddle syndrome 2, Pseudohypoaldosteronism, type IB1
Health Risk
RS200985912
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS56153525
Conflicting classifications of pathogenicity
Liddle syndrome 2, Pseudohypoaldosteronism, type IB1
Health Risk
RS72646501
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS72647517
Conflicting classifications of pathogenicity
Liddle syndrome 2, Liddle syndrome 2
Health Risk
RS72647527
Conflicting classifications of pathogenicity
Liddle syndrome 2, Pseudohypoaldosteronism, type IB1
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139012605 | Health Risk | Conflicting classifications of pathogenicity | Liddle syndrome 2, Pseudohypoaldosteronism, type IB1 |
| RS144653364 | Health Risk | Conflicting classifications of pathogenicity | Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2, Pseudohypoaldosteronism |
| RS145602271 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS146413363 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS146420892 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS148776783 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148985177 | Health Risk | Conflicting classifications of pathogenicity | Liddle syndrome 2, Pseudohypoaldosteronism, type IB1 |
| RS200985912 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS56153525 | Health Risk | Conflicting classifications of pathogenicity | Liddle syndrome 2, Pseudohypoaldosteronism, type IB1 |
| RS72646501 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS72647517 | Health Risk | Conflicting classifications of pathogenicity | Liddle syndrome 2, Liddle syndrome 2 |
| RS72647527 | Health Risk | Conflicting classifications of pathogenicity | Liddle syndrome 2, Pseudohypoaldosteronism, type IB1 |
| RS72647541 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS72647543 | Health Risk | Conflicting classifications of pathogenicity | Liddle syndrome 2, Liddle syndrome 2 |
| RS72647546 | Health Risk | Conflicting classifications of pathogenicity | Liddle syndrome 2, Pseudohypoaldosteronism, type IB1 |
| RS72647550 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS745715995 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS752432261 | Health Risk | Conflicting classifications of pathogenicity | Liddle syndrome 2, Pseudohypoaldosteronism, type IB1 |
| RS762522517 | Health Risk | Conflicting classifications of pathogenicity | Liddle syndrome 2, Pseudohypoaldosteronism, type IB1 |
| RS763601481 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS774767092 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS80081880 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS1596760831 | Health Risk | Likely pathogenic | Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2, Pseudohypoaldosteronism |
| RS1596777509 | Health Risk | Likely pathogenic | — |
| RS1596779485 | Health Risk | Likely pathogenic | — |
| RS1959760028 | Health Risk | Likely pathogenic | — |
| RS1960103151 | Health Risk | Likely pathogenic | SCNN1G-related disorder, SCNN1G-related disorder |
| RS764425655 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS137853342 | Health Risk | Pathogenic | Liddle syndrome 2, Liddle syndrome 2 |
| RS1567262640 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB3, autosomal recessive |
| RS1567270184 | Health Risk | Pathogenic | Liddle syndrome 2, Liddle syndrome 2 |
| RS1596779402 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB3, autosomal recessive |
| RS1596779433 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB3, autosomal recessive |
| RS2141946607 | Health Risk | Pathogenic | Liddle syndrome 2, Liddle syndrome 2 |
| RS866495683 | Health Risk | Pathogenic | Bronchiectasis with or without elevated sweat chloride 3, Bronchiectasis with or without elevated sweat chloride 3 |
| RS886041786 | Health Risk | Pathogenic | — |