SCNN1B Chromosome 16
Sodium channel epithelial 1 subunit beta
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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 beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
Gene Info
Gene Group
Sodium channels epithelial
Locus Type
gene with protein product
Location
16p12.2
Ensembl
ENSG00000168447
Associated Conditions (13)
Pseudohypoaldosteronism
type IB1
autosomal recessive
Bronchiectasis with or without elevated sweat chloride 1
Liddle syndrome 1
SCNN1B-related disorder
Pruritus
hereditary localized
type IB2
Inborn genetic diseases
Low renin
low aldosterone hypertension
Opsoclonus-myoclonus syndrome
Key Variants
RS13306627
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS13306633
Conflicting classifications of pathogenicity
Liddle syndrome 1, Pseudohypoaldosteronism, type IB1
Health Risk
RS139310448
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism, type IB1
Health Risk
RS140927806
Conflicting classifications of pathogenicity
Liddle syndrome 1, Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism
Health Risk
RS140945152
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1, Pseudohypoaldosteronism
Health Risk
RS141909058
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism, type IB1, autosomal recessive
Health Risk
RS146440372
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1, Pseudohypoaldosteronism
Health Risk
RS147926991
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1, Pseudohypoaldosteronism
Health Risk
RS1485041245
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism, type IB1
Health Risk
RS149868979
Conflicting classifications of pathogenicity
Low renin, low aldosterone hypertension, Pseudohypoaldosteronism
Health Risk
RS185554955
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS193211556
Conflicting classifications of pathogenicity
Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1, Pseudohypoaldosteronism
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137852710 | Health Risk | Pathogenic | Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS1555490554 | Health Risk | Pathogenic | — |
| RS1596894031 | Health Risk | Pathogenic | Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1 |
| RS1962240610 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB2, autosomal recessive |
| RS1963032146 | Health Risk | Pathogenic | — |
| RS2142020387 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive |
| RS2142050610 | Health Risk | Pathogenic | Liddle syndrome 1, Liddle syndrome 1 |
| RS2506410452 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB2, autosomal recessive |
| RS2506496434 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB2, autosomal recessive |
| RS2506496921 | Health Risk | Pathogenic | Pseudohypoaldosteronism, type IB2, autosomal recessive |
| RS2506514869 | Health Risk | Pathogenic | Liddle syndrome 1, Liddle syndrome 1 |
| RS387906402 | Health Risk | Pathogenic | Liddle syndrome 1, Pseudohypoaldosteronism, type IB2 |
| RS137852708 | Health Risk | Pathogenic/Likely pathogenic | Liddle syndrome 1, Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism |
| RS536187488 | Health Risk | Pathogenic/Likely pathogenic | Pseudohypoaldosteronism, type IB2, autosomal recessive |
| RS550424284 | Health Risk | Pathogenic/Likely pathogenic | Pseudohypoaldosteronism, type IB2, autosomal recessive |
| RS747116196 | Health Risk | Pathogenic/Likely pathogenic | Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism, type IB2 |
| RS758629218 | Health Risk | Pathogenic/Likely pathogenic | — |