Variant (rsID / SNP)

rs4534

rs4534 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11B1. Location: chromosome 8, position 143,961,102. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CYP11B1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:143961102
Cytoband: 8q24.3
HGVS: NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln)
Allele change: Missense_R43Q

Associated conditions / phenotypes

Glucocorticoid-remediable aldosteronism|Deficiency of steroid 11-beta-monooxygenase

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.