Variant (rsID / SNP)

rs5313

rs5313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11B2. Location: chromosome 8, position 143,994,253. 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: 8:143994253
Cytoband: 8q24.3
HGVS: NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=)
Allele change: Synonymous_L390L

Associated conditions / phenotypes

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

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.