CEP76 Chromosome 18

Centrosomal protein 76

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Associated Conditions (1)

Short stature

Key Variants

RS1363884891

Likely pathogenic

Short stature, Short stature

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1363884891	Health Risk	Likely pathogenic	Short stature, Short stature