PERCC1 Chromosome 16

Proline and glutamate rich with coiled coil 1

1 variant 1 Health Risk

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What This Gene Does

Predicted to be involved in digestive tract morphogenesis and enteroendocrine cell differentiation. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (3)

Diarrhea 11

malabsorptive

congenital

Key Variants

RS1447499380

Likely pathogenic

Diarrhea 11, malabsorptive, congenital

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1447499380	Health Risk	Likely pathogenic	Diarrhea 11, malabsorptive, congenital