rs35731153

This is a variant in the SCNN1B gene that changes a serine to an cysteine.

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ClinVar annotation

Pathogenic★★★☆
15 submitters9 publications

Bronchiectasis with or without elevated sweat chloride 1 (BESC1); Liddle syndrome 1 (LIDLS1); Pseudohypoaldosteronism, type IB1, autosomal recessive; SCNN1B-related disorder; not specified

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About SCNN1B

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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