rs104894090
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)
- Congenital lipoid adrenal hyperplasia due to STAR deficencyPathogenic · ★★ · germline
- not providedPathogenic · ★★ · unknown
rs104894090 is a genetic variant located in the STAR gene. dbsnp · gene
In ClinVar, rs104894090 is classified as Pathogenic for Congenital lipoid adrenal hyperplasia due to STAR deficency (2 review stars, germline; last evaluated 2024-04-25). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs104894090 is classified as Pathogenic for not provided (2 review stars; last evaluated 2024-07-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date
retrieved 2026-08-03 · facts 90ed0d6f768e0a7a · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.