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Variant (rsID / SNP)

rs5736

SCNN1G

rs5736 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1G. Location: chromosome 16, position 23,200,921. 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
16:23200921
Cytoband
16p12.2
HGVS
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)
Allele change
Missense_G183S

Associated conditions / phenotypes

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

Public references

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