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Variant (rsID / SNP)

rs4543

CYP11B2

rs4543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11B2. Location: chromosome 8, position 143,995,743. Clinical significance in the table: Benign.

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Reference-table entries

CYP11B2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
8:143995743
Cytoband
8q24.3
HGVS
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=)
Allele change
Synonymous_A297A

Associated conditions / phenotypes

Corticosterone 18-monooxygenase deficiency|Glucocorticoid-remediable aldosteronism|Corticosterone methyloxidase type 2 deficiency|Corticosterone methyl oxidase type II deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.