CEP97 Chromosome 3
Centrosomal protein 97
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What This Gene Does
Predicted to enable U2 snRNA binding activity and calmodulin binding activity. Involved in negative regulation of cilium assembly and regulation of mitotic spindle assembly. Located in centriole and centrosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
Global developmental delay
Intellectual disability
Key Variants
RS138953348
Conflicting classifications of pathogenicity
Health Risk
RS201771736
Conflicting classifications of pathogenicity
Health Risk
RS552501265
Conflicting classifications of pathogenicity
Health Risk
RS77015203
Conflicting classifications of pathogenicity
Health Risk
RS1060499739
Likely pathogenic
Global developmental delay, Intellectual disability, Global developmental delay
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138953348 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201771736 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS552501265 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS77015203 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1060499739 | Health Risk | Likely pathogenic | Global developmental delay, Intellectual disability, Global developmental delay |