CCDC32 Chromosome 15

Coiled-coil domain containing 32

2 variants 2 Health Risk

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What This Gene Does

Involved in head development and regulation of clathrin-dependent endocytosis. Part of clathrin-coated pit. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (1)

Cardiofacioneurodevelopmental syndrome

Key Variants

RS1890742129

Pathogenic

Cardiofacioneurodevelopmental syndrome, Cardiofacioneurodevelopmental syndrome

Health Risk

RS1890756020

Pathogenic

Cardiofacioneurodevelopmental syndrome, Cardiofacioneurodevelopmental syndrome

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS1890742129	Health Risk	Pathogenic	Cardiofacioneurodevelopmental syndrome, Cardiofacioneurodevelopmental syndrome
RS1890756020	Health Risk	Pathogenic	Cardiofacioneurodevelopmental syndrome, Cardiofacioneurodevelopmental syndrome