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Variant (rsID / SNP)

rs35731153

SCNN1B

rs35731153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1B. Location: chromosome 16, position 23,360,165. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCNN1BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:23360165
Cytoband
16p12.2
HGVS
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
Allele change
Missense_S82C

Associated conditions / phenotypes

Bronchiectasis with or without elevated sweat chloride 1|Liddle syndrome 1|Autosomal recessive pseudohypoaldosteronism type 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.