Variant (rsID / SNP)

rs137852711

rs137852711 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1B. Location: chromosome 16, position 23,383,157. Clinical significance in the table: Pathogenic.

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Reference-table entries

SCNN1BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:23383157
Cytoband: 16p12.2
HGVS: NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr)
Allele change: Missense_P369T

Associated conditions / phenotypes

Bronchiectasis with or without elevated sweat chloride 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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