Variant (rsID / SNP)

rs61759976

rs61759976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR3C2. Location: chromosome 4, position 149,356,308. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NR3C2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:149356308
Cytoband: 4q31.23
HGVS: NM_000901.5(NR3C2):c.1705A>G (p.Arg569Gly)
Allele change: Missense_R569G

Associated conditions / phenotypes

Autosomal dominant 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.