Variant (rsID / SNP)

rs5522

rs5522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR3C2. Location: chromosome 4, position 149,357,475. Clinical significance in the table: Benign.

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Reference-table entries

NR3C2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:149357475
Cytoband: 4q31.23
HGVS: NM_000901.5(NR3C2):c.538G>A (p.Val180Ile)
Allele change: Missense_V180I

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.