Variant (rsID / SNP)

rs137852635

rs137852635 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1A. Location: chromosome 12, position 6,457,364. Clinical significance in the table: Pathogenic.

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Reference-table entries

SCNN1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:6457364
Cytoband: 12p13.31
HGVS: NM_001038.6(SCNN1A):c.1685C>T (p.Ser562Leu)
Allele change: Missense_S562L

Associated conditions / phenotypes

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.