Variant (rsID / SNP)

rs104894068

rs104894068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11B1. Location: chromosome 8, position 143,957,293. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP11B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:143957293
Cytoband: 8q24.3
HGVS: NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)
Allele change: Missense_T319M

Associated conditions / phenotypes

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

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.