Variant (rsID / SNP)

rs5742912

rs5742912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1A. Location: chromosome 12, position 6,458,350. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SCNN1ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:6458350
Cytoband: 12p13.31
HGVS: NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)
Allele change: Missense_W493R

Associated conditions / phenotypes

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

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.