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Variant (rsID / SNP)

rs72657550

SCNN1A

rs72657550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1A. Location: chromosome 12, position 6,457,963. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCNN1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:6457963
Cytoband
12p13.31
HGVS
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala)
Allele change
Missense_G520A

Associated conditions / phenotypes

Bronchiectasis with or without elevated sweat chloride 2|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.