Variant (rsID / SNP)

rs4544

rs4544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11B2. Location: chromosome 8, position 143,994,806. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CYP11B2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:143994806
Cytoband: 8q24.3
HGVS: NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr)
Allele change: Missense_I339T

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.