rs72654338
This is a variant in the SCNN1B gene that changes a glycine to an serine.
▶ClinVar annotation
Pathogenic★★★☆
3 submitters6 publicationsBronchiectasis with or without elevated sweat chloride 1 (BESC1)
View on ClinVar →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]
View all SCNN1B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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