CCDC92B

Chr 17

coiled-coil domain containing 92B

ResearchGenerating clinical summary…
GOFmechanism
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

This gene — mechanism propensity

DN
0.5966th %ile
GOF
0.6932th %ile
LOF
0.3648th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCDC92B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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