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Variant (rsID / SNP)

rs148749888

SCNN1A

rs148749888 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1A. Location: chromosome 12, position 6,458,343. 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
12:6458343
Cytoband
12p13.31
HGVS
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu)
Allele change
Missense_S495L

Associated conditions / phenotypes

Autosomal recessive pseudohypoaldosteronism type 1|Bronchiectasis with or without elevated sweat chloride 2

Public references

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