CYS1 Chromosome 2

Cystin 1

1 variant 1 Health Risk

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What This Gene Does

Predicted to enable chromatin binding activity and transcription corepressor activity. Predicted to act upstream of or within inner ear development; kidney development; and regulation of DNA-templated transcription. Predicted to be located in cytoskeleton; membrane; and nucleus. Biomarker of stomach cancer. [provided by Alliance of Genome Resources, Apr 2025]

Associated Conditions (1)

Autosomal recessive polycystic kidney disease

Key Variants

RS1201981092

Pathogenic

Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1201981092	Health Risk	Pathogenic	Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease