Variant (rsID / SNP)

rs121917782

rs121917782 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD11B2. Location: chromosome 16, position 67,470,167. Clinical significance in the table: Pathogenic.

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Reference-table entries

HSD11B2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:67470167
Cytoband: 16q22.1
HGVS: NM_000196.4(HSD11B2):c.680C>T (p.Pro227Leu)
Allele change: Missense_P227L

Associated conditions / phenotypes

Apparent mineralocorticoid excess, mild

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.