Variant (rsID / SNP)

rs11542844

rs11542844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1A. Location: chromosome 12, position 6,464,581. Clinical significance in the table: Benign.

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Reference-table entries

SCNN1ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:6464581
Cytoband: 12p13.31
HGVS: NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr)
Allele change: Missense_A334T

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.