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Variant (rsID / SNP)

rs61757295

CYP11B2

rs61757295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11B2. Location: chromosome 8, position 143,994,279. 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
8:143994279
Cytoband
8q24.3
HGVS
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=)
Allele change
Synonymous_L382L

Associated conditions / phenotypes

Corticosterone 18-monooxygenase deficiency|Corticosterone methyloxidase type 2 deficiency|Glucocorticoid-remediable aldosteronism|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.