Variant (rsID / SNP)

rs5723

rs5723 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1G. Location: chromosome 16, position 23,226,787. Clinical significance in the table: Benign.

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Reference-table entries

SCNN1GBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:23226787
Cytoband: 16p12.2
HGVS: NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=)
Allele change: Synonymous_L649L

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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