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Variant (rsID / SNP)

rs5738

SCNN1G

rs5738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1G. Location: chromosome 16, position 23,200,963. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SCNN1GBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
16:23200963
Cytoband
16p12.2
HGVS
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)
Allele change
Missense_E197K

Associated conditions / phenotypes

Bronchiectasis with or without elevated sweat chloride 3|Liddle syndrome 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.