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Variant (rsID / SNP)

rs148985177

SCNN1G

rs148985177 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1G. Location: chromosome 16, position 23,226,429. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCNN1GConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:23226429
Cytoband
16p12.2
HGVS
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)
Allele change
Missense_N530S

Associated conditions / phenotypes

Liddle syndrome 2|Autosomal recessive pseudohypoaldosteronism type 1|Bronchiectasis with or without elevated sweat chloride 3

Public references

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