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Variant (rsID / SNP)

rs181065138

SCNN1A

rs181065138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1A. Location: chromosome 12, position 6,464,533. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCNN1AUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
12:6464533
Cytoband
12p13.31
HGVS
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly)
Allele change
Missense_R350W

Associated conditions / phenotypes

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

Public references

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