Variant (rsID / SNP)

rs104894072

rs104894072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11B2. Location: chromosome 8, position 143,996,463. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CYP11B2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:143996463
Cytoband: 8q24.3
HGVS: NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)
Allele change: Missense_E198D

Associated conditions / phenotypes

Corticosterone 18-monooxygenase deficiency|Corticosterone 18-monooxygenase deficiency|Corticosterone methyloxidase type 2 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.