CINP Chromosome 14

Cyclin dependent kinase 2 interacting protein

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Associated Conditions (3)

Intellectual disability

Seizure

Microcephaly

Key Variants

RS1060499740

Likely pathogenic

Intellectual disability, Seizure, Microcephaly

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1060499740	Health Risk	Likely pathogenic	Intellectual disability, Seizure, Microcephaly