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Variant (rsID / SNP)

rs193922540

CYP11B1

rs193922540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11B1. Location: chromosome 8, position 143,958,621. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CYP11B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:143958621
Cytoband
8q24.3
HGVS
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His)
Allele change
Missense_R138H

Associated conditions / phenotypes

Congenital adrenal hyperplasia|Deficiency of steroid 11-beta-monooxygenase|Glucocorticoid-remediable aldosteronism

Public references

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